CONCLUSION: Rituximab offers reasonable efficacy in young children with FRSDNS, with a trend toward a shorter relapse-free period and more potential complications. Rituximab should be reserved until established treatments are exhausted.

INTRODUCTION: There is an unmet clinical need for the development of novel treatment strategies to improve the outcome of children with frequent relapsing or steroid-dependent nephrotic syndrome. Obinutuzumab (OBI) is a second-generation anti-CD20 monoclonal antibody that has demonstrated its superiority to rituximab (RTX) in vitro and in vivo. Our assumption is that a single infusion of low-dose OBI will induce longer B-cell depletion, longer sustained remission and reduce the frequency of...

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CONCLUSIONS: Systematic association of IgIA + ECZ is not supported for all neurological STEC-HUS pediatric patients; potential rescue therapy for severe cases warrants consideration.

CONCLUSIONS: Eculizumab is effective and safe in inducing and maintaining remission in aHUS secondary to anti-FH antibodies and renders reduction of anti-FH titers less urgent. Anti-FH antibody titers decreased in most patients irrespective of the immunosuppressive treatment chosen, so that a strategy consisting of combining eculizumab with MMF monotherapy seems sufficient at least in non-Indian or less severe forms of anti-FH antibody-associated HUS.

CONCLUSION: cIgAN with minimal proteinuria at time of biopsy might be linked with acute and chronic glomerular lesions.

CONCLUSION: A obinutuzumab and daratumumab combination seems to be a promising strategy in post-transplantation SRNS recurrence without response to standard treatment options.

Pediatric steroid-sensitive nephrotic syndrome (pSSNS) is the most common childhood glomerular disease. Previous genome-wide association studies (GWAS) identified a risk locus in the HLA Class II region and three additional independent risk loci. But the genetic architecture of pSSNS, and its genetically driven pathobiology, is largely unknown. Here, we conduct a multi-population GWAS meta-analysis in 38,463 participants (2440 cases). We then conduct conditional analyses and population specific...

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CONCLUSIONS: This study shows that ARA are frequent in children with FR/SDNS and that close immuno- and pharmacological monitoring may help personalizing rituximab treatment in patients needing repeated injections.

CONCLUSION: Global antiB cell strategy combining obinutuzumab and daratumumab induces prolonged peripheral B cell depletion and remission in children with difficult-to-treat SDNS.

Rituximab is an effective treatment for steroid-dependent/ frequently-relapsing nephrotic syndrome (SDFRNS) in children. However, the optimal rituximab regimen remains unknown. To help determine this we conducted an international, multicenter retrospective study at 11 tertiary pediatric nephrology centers in Asia, Europe and North America of children 1-18 years of age with complicated SDFRNS receiving rituximab between 2005-2016 for 18 or more months follow-up. The effect of rituximab prescribed...

CONCLUSIONS: This study confirms that NSAIDs reduce urine wasting of sodium and calcium in patients with BS. Monitoring serum renin levels may be useful to identify the lowest effective dose of NSAIDs that optimizes reduction of urine electrolyte losses.

CONCLUSIONS: The HR genotype is frequent in FSGS patients with African ancestry in our cohort, especially in those originating from the West Indies, and confer a poor renal prognosis. It is usually not associated with other causative mutations in monogenic SRNS genes.

CONCLUSIONS: High PWV and increased cIMT indicating arterial stiffness and hypertrophic vasculopathy may be present in children with ADPKD regardless BP status, and prior to GFR decline, suggesting that vascular disease precedes chronic kidney disease in ADPKD.

CONCLUSIONS: This case highlights the diagnostic pitfalls of CNDI in infancy and underscores the pivotal role of early CP assessment and molecular genetic testing in distinguishing CNDI from CDI. Prompt recognition of CNDI is essential to avoid ineffective dDAVP therapy and to initiate a targeted multidisciplinary approach. Rare AQP2 mutations further expand the genotypic spectrum of CNDI and emphasize the need for heightened clinical awareness and early referral to specialized centers.

CONCLUSIONS: In this cohort, childhood-onset AAV occurred predominantly in females, with MPA as the major subtype and the kidneys being the most frequently involved organ. Glucocorticoids formed the mainstay of treatment. Approximately half of the children achieved remission following treatment. Patients with elevated serum creatinine levels are at higher risk of progressing to ESRD. Most children achieved long-term survival.

[This corrects the article DOI: 10.3389/fped.2026.1761705.].

Posterior reversible encephalopathy syndrome (PRES) is a clinical and radiological entity frequently observed in solid organ transplant recipients, where it is often attributed to the neurotoxicity of calcineurin inhibitors (CNIs). However, its occurrence in anuric patients who had bilateral nephrectomy and chronic kidney disease of the graft, independent of any immunosuppressive treatment, is very rare. This case highlights the crucial and isolated role of extreme fluid overload and hemodynamic...

IgA vasculitis (IgAV) is an immune complex-mediated small-vessel vasculitis that typically affects the skin, gastrointestinal tract, kidneys and joints. Childhood-onset IgAV is a common disease and usually follows a self-limiting course, whereas adult-onset IgAV is considerably less frequent and is associated with a poorer prognosis. The diagnosis, assessment and management of adult-onset IgAV remain challenging owing to the absence of validated diagnostic criteria for adults and lack of...

CONCLUSIONS: Pediatric kidney transplant recipients encounter substantial future challenges in social and professional integration as they progress through adulthood. Our cohort demonstrated moderate educational achievement and employment rates, and most were unmarried. Our findings emphasize the importance of long-term multidisciplinary support to promote successful transitions into adulthood, addressing not only medical needs but also social and occupational needs.

CONCLUSION: This case illustrates the interpretative challenges posed by VUS in complex glomerular disease and underscores the need for disciplined variant classification, careful gene-disease validation, and rigorous clinical-genetic correlation to avoid misclassification and inappropriate management decisions in SRNS.

Chronic kidney disease (CKD) in childhood, although uncommon, has profound lifelong consequences. Because disease onset occurs early, even modest slowing of CKD progression may translate into decades free from dialysis, transplantation, and premature death. Progressive proteinuria is a central driver of nephron loss in pediatric CKD, making early and sustained antiproteinuric strategies particularly impactful. Despite heterogeneous etiologies, including congenital and immune-mediated kidney...

Hereditary thrombotic thrombocytopenic purpura (TTP) is a rare autosomal recessive disorder caused by ADAMTS13 deficiency, typically presenting in childhood or early adulthood. We describe an atypical presentation of hereditary TTP in a 55-year-old man presenting with acute kidney injury on a background of diabetic kidney disease, without prior suggestive history or identifiable triggers. Initial evaluation revealed features of thrombotic microangiopathy, including haemolysis, thrombocytopenia,...

Persistent microscopic hematuria in children is often considered benign, yet recent evidence shows that a substantial proportion of affected individuals have underlying glomerular disease, particularly collagen IV-related nephropathies. We report a case of autosomal dominant Alport syndrome (ADAS) diagnosed just before discontinuation of long-term follow-up in a young woman initially presumed to have benign familial hematuria. The proband had persistent microscopic hematuria from early...

Cystinosis is a rare autosomal recessive lysosomal storage disorder caused by pathogenic variants in CTNS, which encodes cystinosin, a H^(+)/cystine symporter that mediates cystine efflux from lysosomes. Defective cystinosin leads to accumulation of cystine in lysosomes and the formation of cystine crystals in most tissues. In its more severe and frequent form, infantile nephropathic cystinosis, patients present with renal Fanconi syndrome in the first 2 years of life, which progresses to...

Diabetic kidney disease is a complication of inadequately controlled diabetes of any type. It is the main reason for end-stage renal disease and the need to start dialysis, leading to a great burden for health care systems. Moreover, it strongly diminishes the quality of life and shortens life expectancy. The pathophysiology, diagnostics and treatment methods of diabetic kidney disease are not yet fully understood. This complication is underestimated and most often diagnosed in an advanced stage...

CONCLUSIONS: This single-institution disease-specific analysis revealed distinct comorbidity patterns among childhood cancer survivors treated with PBT. Although severe late effects were rare, musculoskeletal and endocrine disorders were frequent, underscoring the need for diagnosis-tailored, long-term follow-up strategies.

CONCLUSIONS: Using the HOUSES Index and COI, we identified a 3-fold to fivefold higher risk of pediatric graft loss among recipients with lower SDOH. These tools provide robust non-biological predictors for transplant outcomes; however, larger studies are required to compare their relative impact.

CONCLUSION: Rituximab offers reasonable efficacy in young children with FRSDNS, with a trend toward a shorter relapse-free period and more potential complications. Rituximab should be reserved until established treatments are exhausted.

Background: Hemodialysis patients are particularly vulnerable to hepatitis B virus (HBV) due to immunosuppression and repeated vascular access. While universal childhood vaccination has reduced population-level HBV prevalence, dialysis units require tailored prevention and monitoring strategies. This study aimed to characterize HBV serologic profiles, evaluate immune responses, and assess the kinetics of antibody waning in a diverse hemodialysis population. Methods: We retrospectively analyzed...

CONCLUSIONS: Although DAAs lead to metabolic and hepatic improvements, long-term prognosis in T2D patients remains largely determined by baseline liver disease severity, insulin resistance, and genetic background. These findings emphasize the importance of early antiviral treatment and optimized metabolic management in this high-risk population.

CONCLUSION: The burden of XLH disease in adulthood is determined by skeletal manifestations and dental disease and may be more severe in males. Additionally, cardiometabolic impairment may not be common. The disease burden impacts most of the individuals, beyond those presenting the criteria for burosumab reimbursement.

CONCLUSION: Despite identical mutations, phenotypic differences highlight complex genotype-phenotype relations, stressing the need for research, genetic counseling, and family member screening.

The gut microbiota, a vast community of symbiotic microorganisms inhabiting our gut, has been recognized as a key-lever for human health, shaping immune system resilience and being essential for immunological homeostasis throughout the life course. Gut microbiota composition may influence both initiation and/or perpetuation of intestinal inflammation, but recent research has highlighted its contribution to both rising and progression of protean non-intestinal inflammatory diseases: indeed, a...

CONCLUSION: Our results in this primarily paediatric cohort highlight the importance of metabolic control and support increasing the blood bicarbonate level for therapy to 24 mmol/L to improve growth. Compared with the overall population, patients with dRTA are at higher risk of CKD from childhood, particularly if they have underlying SLC4A1 variants.

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Hyperphosphatemic familial tumoral calcinosis (HTC) is a rare disease caused by autosomal recessive loss of function variants in the genes encoding fibroblast growth factor 23 (FGF-23), Klotho, or GalNAc-T3. This results in reduced phosphate excretion in the renal proximal tubule, leading to hyperphosphatemia. The clinical manifestations of HTC are mainly periarticular calcifications accompanied by pain and disability, inflammation, and dental problems. Inactive forms or reduced levels of FGF-23...

High-dose methotrexate (HDMTX) is a cornerstone of contemporary treatment protocols for both pediatric and adult acute lymphoblastic leukemia (ALL); however, up to 4% of children and 15% of adults develop renal toxicity with severely delayed MTX elimination (DME). Evidence-based guidance on re-exposure after DME is lacking, and omission of further HDMTX may compromise anti-leukemic efficacy and potentially increase the risk of relapse. This study, conducted within the Ponte di Legno...

CONCLUSION: Women commencing KRT within 12 months postchildbirth represents a high-risk group with complex medical needs. Maternal death during early childhood years is an underrecognized phenomenon and warrants further research.

CONCLUSIONS: Patients with childhood-onset AAV show good overall and graft survival after kidney transplantation and a low rate of post-transplant relapse. Further studies are warranted to confirm whether positive ANCA at the time of transplantation is associated with poorer graft outcomes.

The increasing prevalence of pediatric obesity has raised numerous questions about its health implications, particularly regarding renal transplant outcomes. These complications often hinder medical interventions in these children. While kidney transplants are often viewed from an organocentric perspective, the overall health of the patient is critical to the success of the procedure. Current discussions make it clear that childhood obesity poses significant problems not only for graft survival,...

CONCLUSIONS: Chronic HCV infection may contribute to immune tolerance and reduced allergic expression in BT patients, potentially modulated by IL10 and TLR7 genotypes. Further studies with functional immune profiling and larger cohorts are required.

CONCLUSION: High index of suspicion is important in diagnosing inborn errors of metabolism. Even in resource-limited setting, a multidisciplinary team with international partnership can optimize the care for patients with rare inborn errors of metabolism. There is also a need to increase awareness, improve diagnostic capacity and establish standardized treatment protocols for rare metabolic disorders in low-resource settings like Tanzania.

CONCLUSIONS: Rituximab reduced the risk for INS relapse, and maintenance treatment between 6 and 12 months was associated with further reduction in relapses. Prospective studies are required to better specify the benefit of rituximab maintenance therapy.

CONCLUSION: For children and young adults with LN requiring CYC, use of the EuroLupus regimen increased over time and is associated with demographic and clinical factors such as race or Hispanic ethnicity, renal impairment, and absence of neuropsychiatric involvement. The differences in regimen use with severe renal impairment and neuropsychiatric lupus highlight areas for future study in CYC dosing.

IgA nephropathy (IgAN) is the most common primary glomerulonephritis, typically presenting early in life, often in young adults but also frequently in childhood. This chronic disease can account for up to 50% of cases progressing to kidney failure, particularly when it clinically begins at a young age. Currently validated treatments, such as renin-angiotensin blockers, SGLT-2 inhibitors, and corticosteroids, can slow disease progression, but with limited efficacy. In light of this, novel...

TSC2/PKD1 contiguous gene deletion syndrome (PKDTS) is characterized by poor renal prognosis. We encountered a female patient with a history of facial angiofibromas since childhood who developed seizures and was subsequently diagnosed with tuberous sclerosis complex. The patient later progressed to kidney failure requiring replacement therapy at 23 years of age. Imaging studies showed polycystic kidney disease (PKD) and angiomyolipoma (AML), followed by renal hemorrhage in both kidneys. Genetic...

Advancements in pediatric cancer treatment protocols have significantly improved long-term survival. This has been accompanied by a growing recognition of morbidity and mortality associated with late effects of treatment, including kidney disease. Surviving cancer in childhood implies exposure to multiple nephrotoxic insults, some of which carry a greater risk for the development of chronic kidney disease and progression to kidney failure than others. In childhood cancer survivors who develop...

Rituximab maintains remission of complicated frequently relapsing or steroid-dependent nephrotic syndrome (FRNS/SDNS) by depleting peripheral B cells, but most patients eventually experience relapses after B cell recovery. We performed a multicenter, double-blind, randomized, placebo-controlled trial to assess rituximab's efficacy and safety for childhood-onset uncomplicated FRNS/SDNS (without prior treatment with glucocorticoid-sparing immunosuppressive agents) with a follow-up study to assess...

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IgA nephropathy (IgAN) is the most common glomerulonephritis worldwide, with significant implications for adults and children. The disease progresses variably, from asymptomatic hematuria to severe glomerulonephritis, and around 10-20% of children diagnosed in childhood develop stage 5 chronic kidney disease (CKD 5) within 20 years. Identifying reliable prognostic markers is crucial for early intervention and long-term management. The International IgAN Prediction Tool combines clinical,...

BACKGROUND: While testicular germ cell tumors (TGCT) survival exceeds 90%, many survivors of adult TGCT are at risk for treatment toxicities. Less is known about physical morbidities in children, adolescents, and young adults (CAYA) with TGCT.

Background and Objectives: The nephrotic syndrome (NS) is the most common acquired childhood kidney disease. Steroids represent the cornerstone of the therapeutic strategy, representing the first-line approach, but optimal therapeutic management is debated. This study aimed to compare different steroid therapeutic management protocols. Patients and Methods: A total of 140 NS pediatric patients were enrolled retrospectively. All the kids were divided among three different groups according to the...

CONCLUSION: Individuals with XLH often experience unmet needs throughout life; a multidisciplinary approach involving different specialists, is recommended. The new treatment with burosumab can provide an effective and safety therapeutic option in reducing the burden of the disease in both children and adults. Therefore, awareness about the XLH disease should be increased among stakeholders. The criteria and reimbursement policies of burosumab should be revised.

A young woman with a history of thrombocytopenia was treated for idiopathic thrombocytopenic purpura (ITP) with splenectomy, intravenous immunoglobulin, steroids and chemotherapeutic agents. The patient experienced hearing loss during childhood and, as a teenager, was diagnosed with hypertension and nephrotic-range proteinuria, which progressed to renal failure requiring dialysis. On presentation to our institution, her platelet count was 13×10⁹ /L. Peripheral blood smear showed giant platelets...

CONCLUSION: The finding of this MYH9 p.R424Q variant confirmed a diagnosis of MYH9-RD in these patients. MYH9 variants affecting the head domain typically result in severe thrombocytopenia. This recently reported head domain variant caused severe renal manifestations with mild thrombocytopenia and no manifestations of SNHL or cataracts in both patients, suggesting that this variant causes a renal-predominant form of MYH9-RD.

CONCLUSIONS AND RELEVANCE: In this population-based study, CCS were at increased risk for CKD and hypertension, which are associated with mortality, suggesting that early detection and treatment of these conditions in CCS may decrease late complications and mortality.

ANCA-associated vasculitis (AAV) is a group of rare small vessels vasculitis that preferentially affect the kidneys, lungs and upper airways. Although the detailed pathophysiology remains unclear, genetic background has been shown to play a role in sporadic forms of AAV. The discovery of these susceptibility genes (and associated biological pathways) involved in AAV have shaped the current understanding of AAV pathophysiology. In addition to common genetic polymorphisms, specific rare inborn...

BACKGROUND: Fabry disease (FD) is a rare, X-linked lysosomal storage disorder that affects both males and females. It is caused by pathogenic variants in the gene that encodes the enzyme α-galactosidase A, GLA. The classic form of the disease begins in childhood, presenting with a range of signs and symptoms that can lead to severe complications such as stroke, as well as cardiac and renal failure. In the late-onset form, the disease appears in adulthood, often with signs of cardiac involvement.

Childhood-onset systemic lupus erythematosus (cSLE) is a multi-systemic, inflammatory autoimmune disease that affects many organs including the heart. Pericardial effusion as a primary manifestation of SLE in early infancy is very rare. It has been reported as the first symptom of SLE in adult and adolescent case reports only and the youngest reported case was a three-year-old. We report a case of a 22-month-old infant who had previously been healthy but presented with pericardial effusion and a...

Data on the presentation of Autosomal Dominant Polycystic Kidney Disease (ADPKD) in children have been based on small/regional cohorts and practices regarding both asymptomatic screening in minors and genetic testing differ greatly between countries. To provide a global perspective, we analyzed over 2100 children and adolescents with ADPKD from 32 countries in six World Health Organization regions: 1060 children from the multi-national ADPedKD registry were compared to 269 pediatric patients...

CONCLUSION: Structural inequities in area-level child opportunity may contribute to disparities in both cSLE severity and disease control. Tailoring interventions for communities with low levels of child opportunity may improve access to pediatric subspecialty care and cSLE outcomes.

CLINICAL CHARACTERISTICS: Cystinosis comprises three allelic clinical phenotypes caused by pathogenic variants in CTNS.

CLINICAL CHARACTERISTICS: 3-Hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency can be categorized into three subtypes based on age of presentation. Neonatal onset, the least frequent phenotype, is characterized by hypotonia, seizures, and feeding difficulties at birth. There is a high risk of death in childhood, and individuals that survive typically have developmental delay, seizures, poor weight gain, and growth deficiency and develop a movement disorder. Infantile onset is the most common...

ObjectiveGlucocorticoids are used to treat nephrotic syndrome; however, some patients develop resistance. T-lymphocyte subsets are involved in immune regulation and may be associated with disease progression and treatment response. The current prospective pilot cohort study explored T-cell immune phenotypes associated with steroid responsiveness in patients with nephrotic syndrome.MethodsEleven patients newly diagnosed with nephrotic syndrome between 2023 and 2024, classified as...

CONCLUSION: Due to the numerous potentials of genomic medicine in the management of diseases such as sickle cell disease, stroke, nephrotic syndrome, infectious diseases, cancer, etc., it is important that more funding is provided for research in this field. Favourable policies should also be formulated and implemented to increase genomics training opportunities, improve research participation, and promote local and international collaborations.

CONCLUSION: NELL1-associated MN and PLA2R-associated MN differ not only in clinical and histological features but also in glomerular complement deposition. Reduced C3 and C4d deposition in NELL1-associated MN suggests less prominent glomerular complement activation than in PLA2R-associated MN, supporting biological heterogeneity among antigen-defined MN subtypes.

P53-related protein kinase (PRPK; TP53RK) is an evolutionarily conserved atypical kinase whose biology reveals an unexpected integration of translational control, cytoskeletal regulation, and cell-type-specific stress responses. As a core component of the TCTC complex (Threonyl-Carbamoyl Transferase Complex), PRPK participates in the universally conserved synthesis of the tRNA modification t⁶A, an essential process for translational fidelity, proteostasis, and cellular viability. Structural and...

OBJECTIVES: This report presents final 2024 data on the 10 leading causes of death in the United States by age group, race and Hispanic origin, and sex. Leading causes of infant, neonatal, and postneonatal death are also presented. This report supplements "Deaths: Final Data for 2024," the National Center for Health Statistics' annual report of final mortality statistics.

CONCLUSION: DDS remains a clinically and genetically heterogeneous condition requiring multidisciplinary management. Early genetic diagnosis, vigilant tumor surveillance, and timely kidney transplantation are crucial to improving outcomes in severe cases. Further research is warranted to refine genotype-phenotype correlations and management guidelines.

Nephrotic syndrome is the leading cause of pediatric chronic kidney disease, particularly the steroid-resistant subtype (SRNS). The current diagnostic paradigm relies on prolonged steroid trials or invasive biopsies, often delaying optimal treatment. This study systematically synthesizes evidence from cohort studies on non-invasive molecular biomarkers predicting SRNS at onset. We searched PubMed, Scopus, ScienceDirect, and MEDLINE Ultimate via EBSCO for cohort studies published between January...

Uremic optic neuropathy (UON) is a rare but potentially reversible complication of advanced kidney failure characterized by optic disc edema and visual decline that improves with dialysis. We report the case of a 45-year-old man with no prior diagnosis of chronic kidney disease who presented with 3 months of progressive bilateral blurry vision, eye pain, and exertional fatigue. Ophthalmologic examination revealed bilateral optic disc edema with reduced visual acuity. Laboratory evaluation showed...

CONCLUSION: GIST should be considered a potential cause of AA amyloidosis in patients presenting with nephrotic syndrome or kidney dysfunction in the setting of a solid tumor with high tumor burden and persistent systemic inflammation. Early recognition of this association may facilitate diagnosis and management of a potentially devastating complication.

Rituximab is a chimeric anti-CD20 monoclonal antibody widely used in immune-mediated and hematologic diseases, but its efficacy may be limited by the development of anti-rituximab antibodies (ADAs). This narrative review summarizes current evidence on the incidence, detection, and clinical implications of ADAs in nephropathies and other immune-mediated disorders. ADA prevalence varies markedly across diseases and is influenced by assay methodology, timing of testing, and patient immune...

CONCLUSIONS: Model-informed precision dosing-guided limited sampling strategies are feasible for estimation of current exposure using similar sampling times for mycophenolic acid and tacrolimus. Accurate long-term prediction is not possible, underscoring the need for repeated therapeutic drug monitoring.

Fruquintinib (FRU) is a vascular endothelial growth factor receptor (VEGFR)-1, 2, 3 tyrosine kinase inhibitor (TKI) approved for metastatic colorectal cancer. While hypertension, fatigue, and hand-foot syndrome are common adverse events, severe proteinuria and nephrotic syndrome are rare and has not been reported in clinical trials. A woman in her 60s with recurrent rectal cancer began fruquintinib at 5 mg/d as a 4th-line treatment. She had a history of hypertension and was taking amlodipine. On...

CONCLUSION: Children with FMF and heterozygous pathogenic MEFV exon 10 variants may exhibit a persistent, clinically meaningful phenotype with measurable cumulative damage. These findings support structured surveillance and individualized colchicine decisions integrating genotype with longitudinal clinical course.

CONCLUSION: There was no difference in urine output or weight loss with combination therapy. Given the neutral primary outcome and the need to discontinue therapy in a subset of patients, upfront combination therapy is not recommended based on these findings. However, it should be considered hypothesis-generating for further studies in selected group of children.

Pediatric nephrology is shifting from broad phenotype-based labels toward molecularly defined, genotype-guided diagnosis and management. Childhood kidney disorders are enriched for monogenic causes, yet persistent microscopic hematuria, bilateral kidney cysts, steroid-resistant nephrotic syndrome, and thrombotic microangiopathy may represent shared endpoints of biologically distinct mechanisms. Using these four scenarios, this narrative review illustrates how structured phenotyping, pedigree...

Immunotherapies, particularly immune checkpoint inhibitors, are increasingly used in cancer treatment but can cause immune-related adverse events, including rare renal complications. We report the case of a 72-year-old man with metastatic melanoma receiving combination ipilimumab and nivolumab who presented with progressive bilateral lower limb oedema. Investigations demonstrated severe hypoalbuminemia and nephrotic-range proteinuria. Autoimmune investigations were unremarkable, while kidney...

Pheochromocytoma is a rare catecholamine-secreting tumor, particularly in pediatric populations, and often presents with sustained hypertension. We report the case of a 17-year-old male with a solitary kidney who presented with asymptomatic hypertension and unexpected nephrotic-range proteinuria. Imaging and biochemical workup confirmed a right adrenal pheochromocytoma. The patient underwent a successful laparoscopic adrenalectomy, after which his blood pressure normalized and proteinuria...

A 70-year-old man presented with biopsy-proven phospholipase A2 receptor--negative membranous nephropathy (MN). Shortly thereafter, he presented with progressive sensorimotor polyneuropathy, initially consistent with an inflammatory demyelinating polyneuropathy. Laboratory testing revealed strongly positive anti-contactin-1 (CNTN1) autoantibodies, a rare antigen target recently implicated in a subset of MN patients with concurrent inflammatory demyelinating polyneuropathy, reclassifying it as an...

Membranous nephropathy (MN) is one of the most common causes of nephrotic syndrome in the adult population. Although the majority of the cases of MN are without any inciting event, about a third are caused or associated with immune diseases, infectious diseases, and drugs and toxins. There have been very few cases of association of syphilis and MN. We describe this rare infectious cause of MN in a 41-year-old patient who presented with nephrotic syndrome. The patient was diagnosed with secondary...

Minimal change disease (MCD) is the leading cause of idiopathic nephrotic syndrome in children, accounting for >85% of cases in those aged 1-12 years. Although 80%-90% of patients achieve initial remission with glucocorticoids, steroid dependence or frequent relapses occur in 55%-60% of cases, necessitating prolonged immunosuppression. Long-term steroid exposure in children is associated with severe age-specific adverse events, including growth retardation, skeletal dysplasia, cataracts, and...

The co-occurrence of multiple myeloma (MM), systemic immunoglobulin light chain (AL) and heavy-and-light-chain (AHL) amyloidosis, and systemic lupus erythematosus (SLE) presents a highly complex therapeutic challenge. While B-cell maturation antigen (BCMA)-directed chimeric antigen receptor (CAR) T-cell therapies have reshaped the treatment of MM, their safety and efficacy in patients with underlying autoimmune diatheses and severe organ-damaging amyloidosis remain sparsely documented. We report...

CONCLUSION: Our findings suggest that the efficacy of obinutuzumab in PMN and MCD is not affected by the baseline level of proteinuria. Besides, obinutuzumab monotherapy has shown satisfactory therapeutic effects in both PMN and MCD.

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We experienced membrane nephropathy associated with syphilis infection. A 51-year-old woman had an increase in body weight with leg edema. Blood and urine examination showed low serum protein and heavy proteinuria. She was diagnosed with nephrotic syndrome. The light microscope showed normal glomeruli with no bubbling appearance or spike lesions. Immunofluorescence analysis on the renal biopsy sample showed granular deposition of IgG, C3, C1q, κ and λ on capillary walls. The electron microscope...

CONCLUSIONS: MCD with mesangial IgA deposition represents an uncommon clinicopathological entity situated at the interface between MCD and IgAN. The marked discrepancy between severe nephrotic syndrome and minimal histological lesions despite mesangial IgA deposition strongly suggests a predominant podocytopathy rather than classical proliferative IgAN. Recognition of this phenotype is important to avoid diagnostic misclassification and inappropriate therapeutic strategies. Further studies...

CONCLUSION: Genetic factors remain the predominant cause of CNS in this study's cohort. Despite significant disease course, advances in supportive and specialised care continue to improve outcomes.

CONCLUSIONS: Together, our automated CLIA may help move anti-nephrin IgG testing from specialized research workflows toward standardized clinical application, supporting future use in disease stratification and longitudinal monitoring.

Membranous nephropathy is a leading cause of nephrotic syndrome, driven by autoantibodies targeting podocyte antigens. Although antibodies against PLA(2)R and THSD7A account for the majority of cases, a substantial fraction of patients remain seronegative, implying the existence of additional, unidentified autoantigens. Here, we report the identification of two novel compound heterozygous mutations in LAMA5 encoding Laminin α5, in a pediatric patient with severe nephrotic syndrome. Whole-exome...

CONCLUSIONS: The performance of GFR estimation equations is acceptable only when creatinine and cystatin-C are simultaneously used as filtration markers in nephrotic patients without hypoalbuminemia. Direct GFR measurement is needed for accurate kidney function evaluation in those with hypoalbuminemia, and whenever individual clinical decision makings (including dosing of toxic medications with renal clearance) or evaluations of treatment effects on GFR changes over time are needed in clinics or...

CONCLUSION: Treatment effects differed across interventions, but the overall certainty of the evidence was limited, highlighting the need for well-designed, adequately powered randomized trials with standardized methodologies.

CONCLUSION: QL1706-based therapy achieved disease control in all three patients with EMPM who had limited conventional treatment options, including a durable response in an elderly patient with PD-L1-negative disease and rapid tumor regression with QL1706 monotherapy. The contrasting clinical courses suggest that overall benefit depends not only on tumor sensitivity but also on the accompanying treatment strategy and baseline organ function.

Lipid metabolism disturbances drive Nephrotic Syndrome (NS) progression. Current NS therapies have limited efficacy against lipid disorders and often cause significant side effects. Previously, our glucose tracer profiling revealed a compensatory activation of fatty acid synthesis in NS, highlighting lipid metabolism as a critical pathophysiological factor. However, the specific molecular targets through which the multi-component Fangji Huangqi Tang (FHT) regulates this process remain undefined....

Staphylococcus-associated glomerulonephritis (SAGN) is a subtype of infection-related glomerulonephritis (IRGN) that often affects older adults and can progress rapidly. The role of immunosuppressive therapy in IRGN remains controversial due to the risk of worsening infection and limited evidence from randomized controlled trials. In this report, we present the case of a 70 year-old woman who developed bacteremia, pyogenic sacroiliitis, and multiple iliopsoas abscesses caused by...

Nephrotic syndrome (NS) is characterized by heavy proteinuria and is frequently accompanied by a hypercoagulable, hemorheologically abnormal state. Although glomerular filtration barrier (GFB) failure is central to proteinuria, the contribution of altered microhemodynamic cues to endothelial barrier injury remains incompletely defined. The endothelial glycocalyx (EG) is both a permeability barrier and a mechanosensor of fluid shear stress (FSS). We combined an adriamycin (ADR)-induced NS rat...

Background/Objectives: Anticoagulation in advanced chronic kidney disease (CKD) remains challenging due to limited representation in clinical trials, resulting in uncertainty regarding optimal drug selection, dosing, and monitoring strategies. Methods: We conducted a cross-sectional, web-based survey of clinicians involved in CKD care and anticoagulation prescribing. The questionnaire explored respondent characteristics, methods of renal function estimation, anticoagulant selection across common...

CONCLUSION: The results suggested that recombinant human growth hormone treatment in children with NS significantly improved height, height standard deviation score, predicted adult height standard deviation score, and height velocities, compared with conventional treatment.

No abstract

CONCLUSION: Dengue infection may trigger concurrent glomerular and tubulointerstitial immune-mediated kidney injury. Molecular detection of viral RNA in renal tissue provides evidence of renal involvement.

Hepatic steatosis is a rare complication of pediatric idiopathic nephrotic syndrome, and its clinical course has infrequently been described. A 22-month-old boy presented with generalized edema, oliguria, and massive proteinuria and was diagnosed with idiopathic nephrotic syndrome complicated by urinary tract infection. Following infection control, prednisolone was initiated according to the International Study of Kidney Disease in Children regimen, and complete remission was achieved by day 17....

Membranous nephropathy (MN) is a common pathologic subtype of nephrotic syndrome in adults. Current clinical treatment strategies for MN are limited and are associated with high incidence rates of adverse reactions and risk of recurrence. Consequently, Traditional Chinese Medicine (TCM) has gradually emerged as an alternative option for patients. In recent years, TCM has accumulated substantial clinical experience in the management of MN. This review summarizes the latest research progress on...

Nephrotic syndrome (NS) encompasses a heterogeneous group of glomerular diseases characterized by heavy proteinuria, hypoalbuminemia, edema, and multiple systemic complications. Despite substantial advances in diagnostic techniques and targeted therapies, the management of NS remains challenging in clinical practice. In addition to complex treatment decisions, clinicians must address diagnostic uncertainty, recognize secondary causes, and prevent potentially serious complications including...

Membranous nephropathy (MN) is an autoimmune kidney disease and a major cause of nephrotic syndrome in adults. Although autoantibodies against phospholipase A2 receptor 1 (PLA2R) and complement activation are central to disease pathogenesis, the mechanisms by which anti-PLA2R antibodies activate complement at the podocyte surface remain incompletely defined. Here, we cloned 14 patient-derived anti-PLA2R monoclonal antibodies (mAbs) and found that they predominantly recognized the N-terminal...

CONCLUSIONS: Zolbetuximab therapy is associated with an early decline in serum albumin and total protein in real-world practice, frequently accompanied by edema or ascites and not explained by renal, hepatic, or progressive disease factors. These findings may reflect a treatment-related gastrointestinal protein-losing process and support close laboratory monitoring and supportive management during therapy. Further studies are warranted to clarify mechanism and clinical impact.

No abstract

Levamisole, a synthetic imidazothiazole derivative, remains a cornerstone in the management of frequently relapsing nephrotic syndrome and steroid-dependent nephrotic syndrome in resource-limited settings. While its efficacy as a steroid-sparing agent is well-established, its safety profile is complicated by rare but severe autoimmune phenomena. We present two distinct paediatric cases of levamisole-induced vasculitis from India.The first case involves a female child in middle childhood who...

Chimeric antigen receptor T-cell (CAR-T) therapy is increasingly used in hematologic malignancies but can be complicated by immune-mediated toxicities, including acute kidney injury, which is typically attributed to hemodynamic factors or acute tubular injury. Glomerular diseases in this setting are exceedingly rare, with only isolated case reports in the literature. We report a 65-year-old African American man with relapsed multiple myeloma who developed AKI with nephrotic-range proteinuria...

Minimal change nephrotic syndrome (MCNS) is a major cause of nephrotic syndrome in children and adults. Recent studies identified circulating anti-nephrin antibodies in 30%-50% of patients, linking them to severe proteinuria and frequent relapses. We describe a Japanese woman in her 40s with steroid-dependent nephrotic syndrome (SDNS). Anti-nephrin antibodies were identified in serum obtained at disease onset by immunoprecipitation and ELISA, and kidney biopsy showed punctate IgG colocalizing...

CONCLUSION: The identified markers exosomal (miR-331-3p and miR-486-3p) represented a moderate level of diagnostic accuracy in differentiating between NS patients and controls, with particular efficacy of exosomal miR-331-3p in segregating SRNS cases. These findings suggest potential utility as early predictive biomarkers for glucocorticoid treatment response.

C3 glomerulopathy and acquired partial lipodystrophy (APL) are rare disorders associated with dysregulation of the alternative complement pathway and occasionally coexist. We report a 14-year-old girl who developed nephritic-nephrotic syndrome due to C3 glomerulonephritis concomitant with APL. Despite treatment with mycophenolate mofetil and tacrolimus, kidney function deteriorated, proteinuria increased, and she developed marked faciotruncal lipoatrophy with a 10-kg weight loss. Pegcetacoplan,...

This study systematically evaluated the efficacy and safety of Kunxian Capsules(KXC), used alone or in combination with western medicine, for the treatment of glomerular diseases. A comprehensive computerized search was conducted in PubMed, Web of Science, EMbase, Cochrane Library, ClinicalTrials.gov, CNKI, Wanfang, VIP, and SinoMed databases to collect randomized controlled clinical trials(RCTs) on KXC for glomerular diseases from database inception to May 2025. The risk of bias for the...

CONCLUSIONS: Given the shortage of deceased donor organs, heterozygous parents may be considered suitable donors for children with FHHNC, provided they undergo comprehensive genetic, biochemical, and radiological evaluation to exclude evidence of tubular dysfunction. However, this conclusion should be limited to carefully selected donors, and longer-term follow-up is required to establish the safety of kidney donation in heterozygous CLDN19 carriers.

CONCLUSION: No statistically significant association was detected between pre-transplant body composition parameters and adverse outcomes in this cohort of pediatric kidney transplant recipients. These preliminary findings suggest caution in directly extrapolating adult sarcopenia thresholds to children and highlight the need for larger, adequately powered pediatric studies to develop age-specific risk stratification tools.

CONCLUSIONS: SpHUS in New Zealand has increased since 2020, during a period of rising invasive pneumococcal disease, predominantly involving serotype 19A, with high acute severity and substantial long-term kidney morbidity. The burden is disproportionately borne by Māori and Pacific children, highlighting the need for ongoing surveillance and vaccine strategies responsive to local epidemiology.

Hispanic patients in the United States experience a disproportionate burden of end-stage kidney and liver disease, yet they continue to encounter disparities across multiple stages of the transplantation pathway. This narrative review synthesizes evidence on transplant referral, evaluation, waitlisting, organ allocation, living and deceased donation, structural barriers, interventions, and posttransplant outcomes among Hispanic patients. National and regional studies demonstrate persistent...

CONCLUSIONS: Research priority-setting studies in kidney disease are becoming more common, are increasingly including patients/caregivers, and have become broader in scope over time. However, significant gaps remain, related to studies in low- and middle-income settings, the consistent inclusion end-users of research, and the completeness of reporting.

CONCLUSIONS: International PC guidelines align on core principles; however, notable divergences persist due to evidence gaps and regional practices. Evaluating both clinical content and development quality enhances understanding of guideline credibility and applicability.

CONCLUSION: PRAKI is serious complication of pregnancy, it requires immediate address to the problem. Its markedly different (high) prevalence in developing world indicates impact of socioeconomic status and provision of basic health services in this part of world. Training of health care providers at basic health units with improved antenatal care, skilled birth attendance, timely addressing the problem and referrals to appropriate services must be considered seriously.

CONCLUSIONS: This worldwide survey suggests that there are areas for improvement at a global level in education on ODT, spanning from schoolchildren to the public and from undergraduate to postgraduate medical students. This is a "Call to Action" to close the global education gap.

CONCLUSIONS: The organ shortage emergency is exacerbated by parallel system-level deficiencies. This global survey identifies specific, actionable deficits that must be addressed to build equitable transplant systems worldwide.

There are clear legal and ethical requirements for informed consent in pediatric kidney transplantation. While much is done pre-transplant to educate patients and families on the risks and benefits of transplantation and its associated medical therapies, it can be difficult to truly prepare them for the transformative nature of the transplant- how it will change their lives, their families' lives, and their view of themselves and their world. Using the lens of "transformative experiences" as...

CONCLUSIONS: BKV-HC is an uncommon complication in nontransplanted children receiving chemotherapy for hematological malignancies. Clinical outcomes are generally favorable with conservative management.

Sodium-glucose cotransporter-2 (SGLT2) inhibitors are a cornerstone of adult heart failure (HF) therapy and are increasingly prescribed off-label to children, yet pediatric outcomes have never been pooled. We searched PubMed/MEDLINE, Embase, Scopus, and Web of Science to 14 August 2026 for studies of any SGLT2 inhibitor in children or adolescents with HF and performed a single-arm meta-analysis of all exposed patients and a pairwise meta-analysis of the comparative studies with random-effects...

CONCLUSION: PRES is a rare but severe complication in children after transplantation, with a higher incidence and severity than previously reported. Our findings suggest a key role of endothelial dysfunction. Early recognition of risk factors and careful interpretation of MRI are crucial for timely diagnosis and management.

Pediatric nephrology is shifting from broad phenotype-based labels toward molecularly defined, genotype-guided diagnosis and management. Childhood kidney disorders are enriched for monogenic causes, yet persistent microscopic hematuria, bilateral kidney cysts, steroid-resistant nephrotic syndrome, and thrombotic microangiopathy may represent shared endpoints of biologically distinct mechanisms. Using these four scenarios, this narrative review illustrates how structured phenotyping, pedigree...

CONCLUSIONS: Kasai portoenterostomy should remain the recommended first-line treatment for most infants with BA, but its benefit is limited to only a proportion of patients. Some patients may be processed rapidly to LT because they present too late or with advanced disease: these patients have excellent outcomes as well.

Idiopathic nephrotic syndrome (INS) is the most common chronic glomerular disease in children. Corticosteroids remain first-line therapy, and the initial response, differentiating steroid-sensitive (SSNS) from steroid-resistant (SRNS) forms, is the strongest prognostic factor. While most childhood-onset INS results from an incompletely defined dysregulation of the immune system, up to one-third of children with initial SRNS have a monogenic etiology. SSNS typically follows a relapsing-remitting...

CONCLUSIONS: salivary excretion of TTV was identified in children and adolescents who underwent kidney transplantation. Although no correlation was observed between TTV and SARS-CoV-2, an association was found between TTV and serum tacrolimus levels.

CONCLUSIONS: For the indications of proteinuria and hypertension, clinical outcomes were similar between bilateral vs. unilateral nephrectomy for individuals who underwent kidney transplantation. These findings support consideration of pursuing fewer bilateral native nephrectomies in these patient populations.

Pediatric chronic kidney disease (CKD) is traditionally viewed as a disorder of impaired renal function, yet its effects extend far beyond the kidneys. Growing evidence indicates that CKD may disrupt brain development through interconnected biological, vascular, inflammatory, and psychosocial mechanisms, with lasting consequences for cognition, mental health, and educational attainment. In this perspective, we propose the kidney-brain axis as a neuro-renal framework for understanding these...

CONCLUSION: Although laboratory abnormalities were uncommon, targeted assessment of proBNP and thyroid function may be clinically relevant in infants with extensive hepatic involvement. Both imaging modalities detected hepatic IH. CEUS demonstrated diagnostic findings largely consistent with MRI in hepatic hemangioma evaluation, suggesting its potential as a complementary tool without compromising disease severity assessment. CEUS advantages include real-time imaging and avoidance of sedation or...

CONCLUSION: This study provides new insights into PH pathogenesis through integrative WES and transcriptomic analysis, identifying hypothesis-generating candidate genes potentially linked to nephrolithiasis susceptibility in this small cohort that warrant further functional validation in larger, independent populations.

CONCLUSIONS: This descriptive, single-center experience on USPD delivery, complications, and one-year outcomes. The small sample, absence of a comparator group, and heterogeneity preclude conclusions about safety, timing effects, or predictors.

Sequential dual-organ living donation, defined as donation of a kidney and a partial liver graft by the same individual in separate operations, represents a rare extension of living donor transplantation. A donor-focused analysis was performed to characterize the donor population, the operative considerations posed by a second donor operation, and early donor outcomes at a single high-volume center. A retrospective review of all dual-organ living donors at our institute was performed....

CONCLUSIONS: Real-world surveillance coverage and interpretable yield were incomplete, and documented management impact was limited. These data do not establish a benefit of uniform annual surveillance and provide a rationale for prospective evaluation of risk-adapted strategies.

Paediatric kidney transplantation substantially improves survival and quality of life in children with end-stage kidney disease. However, impaired linear growth and broader developmental challenges remain common after transplantation. This article provides an evidence-based narrative review of the mechanisms, clinical determinants, monitoring strategies, and management options for post-transplant growth and development in paediatric kidney recipients, with particular emphasis on the growth...

While living kidney donation is considered safe and beneficial, long-term psychosocial donor outcomes remain under-explored, particularly regarding donor-recipient relationships and caregiving dimensions. This study examined quality of life (QoL) and psychological outcomes among 713 living kidney donors from two major European transplant centers, assessing QoL, anxiety, depression and somatization alongside donor-recipient relationship types, caregiver role, caregiving burden and perceived...

Burosumab is effective in improving rickets in children with X-linked hypophosphatemia (XLH). Predictors of health-related quality of life (HRQoL) in pediatric XLH patients treated with burosumab are unknown. In this cross-sectional analysis of a prospective binational observational study, we investigated HRQoL in 64 pediatric XLH patients (36 female) on burosumab treatment, using the KIDSCREEN-52 questionnaire and qualitative interviews. Associations between HRQoL and clinical findings were...

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous ciliopathy associated with hyperphagic obesity and kidney disease. Evidence on setmelanotide after pediatric kidney transplantation is limited. We evaluated two children with BBS treated with setmelanotide after kidney transplantation, collecting anthropometric, hunger, metabolic, graft-function, cyclosporine and genetic data. Patient 1, a 17-year-old boy with a homozygous pathogenic SDCCAG8 exon deletion, improved over 12 months: weight...

Ruxolitinib is a cornerstone treatment for steroid-refractory graft-versus-host disease (GVHD) following allogeneic hematopoietic stem cell transplantation (HSCT) in children, yet longitudinal data on kidney function during such therapy remain limited. We retrospectively analyzed 38 pediatric patients (0-18 years) receiving ruxolitinib for acute or chronic GVHD between January 2018 and December 2025, assessing kidney function at six timepoints from baseline to month 6. Mean serum creatinine rose...

Aortic diseases are often clinically silent until advanced stages, and risk determinants beyond traditional cardiovascular factors remain incompletely characterised. Here, we investigate associations of 42 chronic conditions and multimorbidity with incident aortic disease in UK Biobank (UKB), with external validation in China Kadoorie Biobank (CKB). In UKB, 21 chronic conditions are associated with overall aortic disease after false discovery rate correction, including coronary heart disease,...

Sarcopenia is increasingly recognized in pediatric chronic diseases, yet its prevalence and determinants in children with intoxication-type inborn errors of metabolism (IEM) have never been investigated. This study aimed to evaluate sarcopenia in this population and to investigate associated metabolic alterations. We conducted a retrospective single-center study including 45 pediatric patients (0-18 years) with maple syrup urine disease (MSUD, 11 pts.), organic acidurias (OA, 22 pts.), or urea...

CONCLUSION: Among pediatric and young adult kidney transplant recipients, IHC was comparable across induction agents. Younger age at transplantation and DGF were associated with significantly higher IHC.

CONCLUSION: In this selected cohort, left lateral segment transplantation was associated with excellent outcomes across weight groups. Acceptable results in small infants were achieved despite higher GRWR in a specialized setting, supporting LLS grafts as an important option to improve access to timely pediatric transplantation.

CONCLUSIONS: Early graft loss risk in small-donor single-kidney transplantation declines after the learning phase, with acceptable short-term outcomes and high organ utilization. This approach appears feasible in experienced centers, though long-term efficacy requires prospective validation.

Pharmacokinetic monitoring is insufficient to estimate the intensity of immunosuppression after kidney transplantation (Tx). The randomized controlled IVIST trial demonstrated that additional steering of immunosuppressive therapy by virus-specific CD4^(+) T cells (Tvis) is safe and reduces exposure to immunosuppressants. The adenovirus-specific CD4^(+) T cells (ADV-Tvis) proved to be particularly suitable due to their stability and high prevalence. Another promising biomarker for post-Tx...

CONCLUSIONS: Intraoperative features related to pre-unclamp volume resuscitation, MAP control, and post-unclamp hemodynamic instability are associated with slower graft function in pediatric kidney transplantation.

While successful kidney transplantation has been reported in pediatric patients with primary mitochondrial diseases, immunosuppression regimen and its effect on systemic disease were not described. We present four pediatric patients with genetically confirmed RMND1 disease in a quaternary nephrology center. They presented at a very young age and progressed rapidly to stage 5 chronic kidney disease. All underwent successful kidney transplantation. Their allograft function remained stable...

Leveraging the Transplant Pregnancy Registry International, we conducted a retrospective study of children born to liver transplant (LT) recipients between 1986-2023 to evaluate long term health outcomes of offspring. Child data were collected primarily from bi-yearly maternal phone interviews. Descriptive statistics and multivariate analyses were used to evaluate risk factors for adverse child outcomes. There were 599 children with follow-up data, born to 435 LT recipients of whom 73% were...

Steroid-resistant nephrotic syndrome (SRNS) is a major cause of kidney failure and remains a clinical challenge. Bibliometric analysis offers a quantitative approach to reveal research patterns and hotspots, yet, to our knowledge, no bibliometric analysis has focused specifically on SRNS. To summarize global research trends and future directions in SRNS. Publications related to SRNS from 1 January 1999 to 14 June 2026 were retrieved from the Web of Science Core Collection (WoSCC) database....

ABOi transplantation is a growing practice with excellent clinical outcomes. Some paediatric transplant programmes are reluctant to offer ABOi transplantation and list children on a DD waiting list. However, there are no studies directly comparing the outcomes between pediatric ABOi LD kidney transplants (LDKTx) and ABOc DD transplants (DDKTx). Data were retrieved on all pediatric kidney transplants from 1987-2020, from the United Network for Organ Sharing. Propensity score matching was used to...

CONCLUSION: Pure TCMR with MVI, particularly in the setting of a "v" lesion, represents a high-risk phenotype associated with poorer graft survival, warranting mechanistic investigations and targeted therapeutic strategies.

CONCLUSIONS: This case highlights the potential role of alemtuzumab as an alternative lymphocyte-depleting therapy for the treatment of acute rejection in pediatric kidney transplant recipients, particularly when rATG is contraindicated. Moreover, treatment with alemtuzumab may preclude the need for additional B-cell directed therapy in cases of mixed T-cell- and antibody-mediated rejection. Further studies are needed to better define its safety, efficacy, and optimal role in this population.

BACKGROUND: Long COVID is a heterogeneous condition associated with both early immune responses to SARS-CoV-2 and antibody responses to herpesviruses. However, herpesvirus-directed antibody responses during acute SARS-CoV-2 infection and their relationship to subsequent long COVID remain poorly understood.

CONCLUSIONS: This first nationwide description of outcomes following kidney transplant failure in the UK highlights strong evidence of pre-emptive re-transplantation inequalities, favouring White people, those in less deprived areas and males.

CONCLUSIONS: The results of this initial study suggest that 10 °C storage may offer a modest protective effect in a short-storage porcine donation after circulatory death autotransplantation model; however, no benefit was demonstrated with prolonged storage, suggesting that any potential effects may be organ- and preservation solution-specific, as well as time-dependent. Larger studies are needed to draw more definitive conclusions.

Since October 7th, 2023, the healthcare system in Gaza has suffered severe damage. Patients with chronic kidney diseases, particularly those needing dialysis, are among the most affected. This study aimed to summarize the impact of the war on patients with kidney failure. Data were collected by either visiting the dialysis centers or contacting them through phone calls and text messages. We found that the total number of patients had decreased from 1022 patients in late 2022 to 750 patients in...

Sustainable nephrology should be recognized not only as an environmental priority but also as an economic and clinical imperative. Kidney care, particularly dialysis, is among the most resource-intensive areas of healthcare, generating substantial costs and environmental impacts through high consumption of water, energy, plastics, and pharmaceuticals. Increasing evidence suggests that strategies such as chronic kidney disease prevention, risk-based follow-up, conservative kidney management,...

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CONCLUSION: Pediatric KT recipients were more likely to be male, White, and aged 12-18 years. Racial disparities persist, with ethnic minority groups-particularly Black patients-facing reduced access to KT. These findings underscore the necessity of implementing targeted interventions to promote equitable access to pediatric KT.

Autosomal recessive polycystic kidney disease (ARPKD) is a rare genetic disorder primarily affecting the kidneys and liver. Clinicians should recognize early signs such as enlarged, echogenic kidneys in utero or during infancy. ARPKD most commonly results from mutations in Polycystic Kidney and Hepatic Disease 1 (PKHD1), leading to renal cysts and congenital hepatic fibrosis in early life. About half of the patients with ARPKD develop end-stage renal failure requiring renal replacement therapy,...

CONCLUSION: This study was the first time to simultaneously recommend the optimal initial dosage of tacrolimus for both adult and pediatric MN patients based on MIPD. Moreover, the dosage required for pediatric MN patients was higher than that for adult MN patients.

CONCLUSION: In this cohort of children with refractory SRNS, favorable responses to rituximab were observed predominantly among patients with CNI-resistant MCD and MCD with IgM deposition, whereas responses among patients with FSGS were uncommon. These findings suggest that renal histopathology may help identify patients more likely to benefit from rituximab therapy; however, the small sample size, heterogeneous histopathological distribution, and observational study design preclude definitive...

Monoclonal gammopathy, paraprotein secreted by a clonal B-lymphoproliferative or plasma cell disorder, is quite rare in children and adolescents and may be transient. Kidney injury related to monoclonal proteins, or monoclonal gammopathy of renal significance (MGRS), is correspondingly rare and may be relatively unfamiliar to pediatric nephrologists when encountering such diagnoses on kidney biopsy (e.g., amyloid, light chain tubulopathy, light chain cast nephropathy). Several recently described...

CONCLUSION: The profile of glomerulopathies reflects not only local biopsy indications but also the heterogeneity of the population of Northeast Brazil and its particular ethnic and socioeconomic characteristics. Glomerulopathies, such as LN, accounted for the majority of cases, indicating the influence of ancestral factors in this region.

Primary membranous nephropathy (PMN) in pregnancy is rare and poses significant risks including pre-eclampsia, preterm delivery, low birth weight and fetal death. Anti-phospholipase A2 receptor (PLA2R) antibodies are used to confirm diagnosis.We report a case of biopsy-confirmed PLA2R-positive but seronegative PMN in a woman in her late 20s with a dichorionic-diamniotic twin pregnancy. Initial hypoalbuminaemia was attributed to intercurrent infection but was later recognised as nephrotic...

CONCLUSIONS: Rituximab was associated with better kidney function preservation than calcineurin inhibitors over long follow-up. Proteinuria remission and relapse results favored rituximab but did not reach statistical significance. Long-term treatment comparative effectiveness in rare diseases can be evaluated with real-world data.

IgA nephropathy (IgAN), IgA vasculitis (IgAV), focal segmental glomerulosclerosis (FSGS), membranous nephropathy (MN), and minimal change disease (MCD) account for the majority of idiopathic glomerulo-nephropathies (GN). These disorders involve immune system dysregulation and have a complex genetic architecture. Currently, there are no adequately powered blood transcriptomic datasets coupled to genetic data from patients with GN that can delineate disease-context specific genetic effects on the...

CONCLUSION: IgM sialylation status tracks disease activity and modulates podocyte structural, metabolic, and signaling responses, supporting immune glycan remodeling as a disease-associated modifier of podocyte vulnerability in iNS.

Membranous nephropathy (MN) is uncommon in children overall, but secondary MN is relatively common in younger children. Inflammatory bowel disease (IBD) can be complicated by kidney disease, but IBD complicated by MN is rarely reported. A 3-year-old boy diagnosed with very early onset IBD (VEO-IBD) a year earlier was incidentally found to have proteinuria via urine screening system. Laboratory tests revealed nephrotic syndrome with microscopic hematuria and signs of ongoing inflammation...

CONCLUSIONS AND RELEVANCE: In this exploratory analysis, treatment with finerenone slowed kidney function decline, reduced albuminuria, and lowered the risk of kidney failure or substantial loss of kidney function in patients with glomerular diseases. These findings suggest an important role for finerenone in preserving kidney function in this population.

A 10-year-old boy was admitted with facial edema and proteinuria for two months, occurring nine months after hematopoietic stem cell transplantation. He was clinically diagnosed with nephrotic syndrome and showed no remission after four weeks of standard glucocorticoid therapy, suggesting steroid-resistant disease. Renal biopsy was consistent with membranous nephropathy. Mass spectrometry identified granular co-deposition of IgG and semaphorin 3B (Sema3B) along the glomerular basement membrane,...

Bullous systemic lupus erythematosus (BSLE) is a rare blistering manifestation of systemic lupus erythematosus (SLE), characterized by widespread tense bullae resulting from autoantibodies against type VII collagen. It is predominantly seen in women and is exceptionally rare in pediatric males. We report a case of a 14-year-old South Asian male with recurrent tense blisters over the trunk, face, extremities, palms, and mucosa, alongside systemic features including photosensitivity, arthralgia,...

Treatments that deplete or modulate B cells are in use or being investigated for several immune-mediated glomerular diseases. Kidney Disease: Improving Global Outcomes (KDIGO) convened a Controversies Conference in Panama City, Panama, in June 2025 to review current evidence and identify key gaps in knowledge and research needs to effectively apply such therapies. Availability, effectiveness, and safety of B cell-targeted therapies vary substantially across glomerular diseases. In IgA...

Membranous nephropathy (MN) is an uncommon cause of nephrotic syndrome in children, accounting for fewer than 5% of cases. Primary MN mediated by antibodies against the phospholipase A2 receptor (PLA2R) is particularly rare in the paediatric population. We report the case of a 14-year-old girl with type 1 diabetes mellitus and autoimmune hypothyroidism who presented with nephrotic syndrome and was subsequently diagnosed with PLA2R-positive primary MN. She presented with periorbital oedema,...

We aimed to systematically evaluate the strength and credibility of evidence linking exposure to five major heavy metals, including arsenic, cadmium, lead, mercury, and chromium, with health outcomes (PROSPERO, CRD420251169899). Literature searches of PubMed/Embase, CINAHL, and Google Scholar up to April 20, 2025, identified meta-analyses of observational studies assessing these associations. Effect sizes were recalculated using random-effects models and expressed as equivalent odds ratios (eOR)...

CONCLUSION: Anti-nephrin antibodies have a relatively high positive rate in podocytopathies and have a differentiating effect on SSNS and non-SSNS in children. Anti-nephrin antibodies are associated with the clinical severity and recurrence of podocytopathies.

Juvenile idiopathic arthritis is common rheumatic disease in children and adolescents, but renal involvement is uncommon. Renal involvement is mostly in the form of secondary renal amyloidosis presenting as proteinuria. Membranous nephropathy is an uncommon renal manifestation of juvenile idiopathic arthritis. Here, we report a case of HLA-B27-positive oligoarticular juvenile idiopathic arthritis presenting as subnephrotic proteinuria. The patient also had positive anti-phospholipase A2 receptor...

Nephrotic syndrome (NS) occurring in children with cancer represents a rare yet clinically important paraneoplastic complication. Within pediatric oncology, both primary (idiopathic) and secondary forms of glomerular disease have been identified, most frequently presenting as minimal change disease (MCD), focal segmental glomerulosclerosis (FSGS), or membranous nephropathy (MN). Emerging evidence highlights the involvement of anti-nephrin autoantibodies in a significant subset of idiopathic...

CONCLUSION: FSGS exhibits a notably high prevalence in SRNS and remains the most frequently observed histopathological lesion associated with this condition.

Chronic kidney disease affects 1 in 10 people worldwide, with damage to specialized blood filter cells of the kidney, called podocytes, playing a critical role. In membranous nephropathy (MN), a major cause of nephrotic syndrome, circulating autoantibodies attack proteins on podocyte foot processes (FPs), damaging the kidney's filtration barrier. Our study shows that these autoantibodies trigger the formation of antigen-autoantibody aggregates on the podocyte FP plasma membrane. These aggregates...

CONCLUSIONS: JAK/STAT pathway overactivity is present in pediatric patients with primary FSGS and predicts the severity of disease. JAK/STAT hyperactivity is likely driven by cytokine signaling and may be targeted by JAK inhibition.

INTRODUCTION: Immunoglobulin G4 (IgG4)-related disease (IgG4-RD) is a rare and chronic fibroinflammatory condition hallmarked by tumefactive lesions that can affect nearly any organ of the body and lead to fibrotic organ destruction. Parenchymal and non-parenchymal affection of the kidney and urogenital tract are subsumed under the umbrella term IgG4-related kidney disease (IgG4-RKD), which is a severe and quite common organ manifestation in IgG4-RD. The immunopathogenesis in IgG4-RD is depicted...

Early data have shown the potential of chimeric antigen receptor (CAR) T-cell therapies to expand the therapeutic landscape in systemic lupus erythematosus (SLE). While many CAR T-cell therapy learnings can be drawn from the experience of this modality in oncology, key questions remain regarding clinical development considerations unique to lupus. To assess and discuss these issues, the Lupus Accelerating Breakthroughs Consortium, a public-private partnership, convened a multi-partner working...

CONCLUSIONS: This study provides robust genetic evidence for repurposing GLP-1RAs in CKD and IgAN through anti-inflammatory (FGF23) and metabolic pathways, extending their utility beyond glucose control. While European ancestry data limit generalisability, our framework prioritises FGF23 and metabolic modulation as key targets for clinical trials in renal protection.

CONCLUSION: Our commentary underscores the need for increased participation in clinical trials to validate regional applicability and improve long-term outcomes for people with GD in Australia and New Zealand. Clinical trials of new medications have led to more treatment options that are awaiting approval.

CONCLUSIONS: This system of reporting urine sediment is a sensitive and efficient method for predicting the severity of underlying kidney disease and need for performing renal biopsy.

CONCLUSION: In this study, we found several PLA2R1 and HLA-DQA1 single-nucleotide polymorphism loci associated with primary membranous nephropathy morbidity and that some PLA2R1 single-nucleotide polymorphism loci were related to the treatment response of patients with primary membranous nephropathy.

CONCLUSION: This study unveils self-reported Black race, young age (aged < 18 years) and Latinx ethnicity as potential risk factors associated with worse kidney outcomes.

There is rapidly increasing evidence of the role of complement in different forms of kidney disease and this has broadened the field to involve not only atypical hemolytic uremic syndrome (aHUS) and C3 glomerulopathy (C3G), but also a number of other glomerular diseases, mainly ANCA-associated renal vasculitis, immune-complex glomerulonephritis, membranous nephropathy, and IgA nephropathy (IgAN). In parallel, the field of therapeutic agents able to target the three complement pathways at...

CONCLUSIONS: In the CureGN cohort, elevated risk of incident CV and TE events is associated with severity of kidney disease rather than GD subtype.

Allogeneic hematopoietic progenitor cell transplantation is a widely used procedure, and graft-versus-host disease (GVHD) is a common complication. Glomerular involvement due to GVHD is exceptional.

CONCLUSIONS: Our study demonstrated that IMRCs inhibited TGF-β1-induced fibrosis in HESCs, suppressed the EMT process ex vivo, reduced the inflammatory response, and reversed endometrial damage and fibrosis in IUA rats. IMRCs exerted their effects through the paracrine pathway, with specific miRNAs in Exos downregulating the TGF-β/Smad signaling pathway to inhibit uterine endometrial fibrosis. IMRCs provide a new direction for the treatment of IUA.

CONCLUSIONS: The spectrum of kidney disease has changed within the last 14 years. The relative frequency of MN and DN increased significantly, while that of HBVN decreased significantly. These findings highlight the need for ongoing public health efforts tailored to the changing spectrum of kidney diseases.

CONCLUSIONS: This genetic-level investigation uncovers causal associations between immunophenotypes and PGDs, providing valuable insights into the immunological underpinnings of PGDs. Our findings suggest potential targets for treatment strategies, thereby facilitating more personalized and effective therapeutic approaches in PGDs management.

CONCLUSIONS: In the Nephrotic Syndrome Study Network cohort, combined PLA2R-Ab testing with ELISA and IIF provided optimal test characteristics in making a noninvasive diagnosis of MN before or soon after kidney biopsy, including in patients with subnephrotic proteinuria. Further studies in multiethnic populations are needed to assess whether genetic data can augment this approach.

CONCLUSIONS: CTLA4-Ig ameliorated induction of experimental membranous nephropathy, potentially through suppression of Th17 cells in the kidney, and may represent an effective adjunct treatment in membranous nephropathy.

Our review summarizes and evaluates the current state of knowledge on lipid metabolism in relation to the pathomechanisms of kidney disease with a focus on common pediatric kidney diseases. In addition, we discuss how nutrition in early childhood can alter kidney development and permanently shape kidney lipid and protein metabolism, which in turn affects kidney health and disease throughout life. Comprehensive integrated lipidomics and proteomics network analyses are becoming increasingly...

CONCLUSION: Genetically influenced plasma levels of PLA2R1 and NFKB1 impact MN risk, while FCGR3B and BTN3A1 levels are causally linked to IgAN risk, suggesting potential drug targets for further clinical exploration, notably BTN3A1 for IgAN.

Background: A renal biopsy is essential for the identification and management of renal disorders. Although considered an invasive operation, it is necessary for a definitive diagnosis and treatment of many renal diseases. The primary goal of this study was to assess the clinicopathological aspect of renal diseases undergoing biopsy in children receiving tertiary care.Patients and Methods: Children (≤18 years) hospitalized with nephrotic syndrome were the subjects of this cross-sectional study,...

Patients with nephrotic syndrome (NS) present with edema, proteinuria, hypoalbuminemia, and hyperlipidemia. In children, the most common causes are idiopathic minimal change disease and focal segmental glomerulosclerosis (FSGS). In adults, FSGS and membranous nephropathy (MN) are the most common primary causes. There are numerous secondary causes, including diabetes, amyloidosis, systemic lupus erythematosus, hematologic malignancies, and infections. In addition to confirming the diagnosis of NS...

DNASE1L3 is an extracellular nuclease that digests chromatin released from apoptotic cells. DNASE1L3 variants impair the enzyme function, enhance autoantibody production and type I interferon (IFN-I) responses, and cause different autosomal recessive phenotypes ranging from hypocomplementemic urticarial vasculitis syndrome to full-blown systemic lupus erythematosus (SLE). Kidney involvement in patients with DNASE1L3 variants is poorly characterized. Herein, we describe the clinical course of 3...

CONCLUSION: The pathological type of NS may be associated with specific malignancies in patients with PNS. Prompt identification of PNS coupled with suitable therapeutic intervention has a significant impact on the outcome for patients.

Treatment of glomerulonephritis presents several challenges, including limited therapeutic options, high costs, and potential adverse reactions. As a recognized Chinese patent medicine, Tripterygium wilfordii poly-glycosides (TWP) have shown promising benefits in managing autoimmune diseases. To evaluate clinical effectiveness and safety of TWP in treating glomerulonephritis, we systematically searched PubMed, Cochrane Library, Web of Science, and Embase databases for controlled studies...

CONCLUSIONS: In this study, circulating antinephrin autoantibodies were common in patients with minimal change disease or idiopathic nephrotic syndrome and appeared to be markers of disease activity. Their binding at the slit diaphragm induced podocyte dysfunction and nephrotic syndrome, which highlights their pathophysiological significance. (Funded by Deutsche Forschungsgemeinschaft and others.).

CONCLUSIONS: Cyclophosphamide can induce immunological remission earlier than rituximab at the span of 6 months. The PLA2R-CTLD1-IgG4 has a better predict value than total PLA2R-IgG for remission of proteinuria at the 6th month.

Recent progress in glomerular immune complex and complement-mediated diseases have refined diagnostic categories and informed mechanistic understanding of disease development in pediatric patients. Herein, we discuss selected advances in 3 categories. First, membranous nephropathy antigens are increasingly utilized to characterize disease in pediatric patients and include phospholipase A2 receptor (PLA2R), Semaphorin 3B (Sema3B), neural epidermal growth factor-like 1 (NELL1), and protocadherin...

Here, we used digital spatial profiling (DSP) to describe the glomerular transcriptomic signatures that may characterize the complex molecular mechanisms underlying progressive kidney disease in Alport syndrome, focal segmental glomerulosclerosis, and membranous nephropathy. Our results revealed significant transcriptional heterogeneity among diseased glomeruli, and this analysis showed that histologically similar glomeruli manifested different transcriptional profiles. Using glomerular...

CONCLUSION: The results of this study suggest a potential link between PCa and a higher risk of ED.

The deposition of antipodocyte autoantibodies in the glomerular subepithelial space induces primary membranous nephropathy (MN), the leading cause of nephrotic syndrome worldwide. Taking advantage of the glomerulus-on-a-chip system, we modeled human primary MN induced by anti-PLA2R antibodies. Here we show that exposure of primary human podocytes expressing PLA2R to MN serum results in IgG deposition and complement activation on their surface, leading to loss of the chip permselectivity to...

CONCLUSIONS: IHC PLA(2)R staining of glomerular tissue is a useful diagnostic marker of IMN. Though PLA(2)R prevalence is lower in children, its role in guiding treatment needs further exploration.

INTRODUCTION: Parvovirus B19 is a clinically important viral mimic of systemic inflammatory rheumatic diseases, frequently presenting as an abrupt-onset inflammatory polyarthritis in adults. While typically self-limiting, B19V infection can induce transient autoantibodies, cytopenias, and phenotypes resembling rheumatoid arthritis or systemic lupus erythematosus. In specific contexts, it may also lead to persistent or atypical musculoskeletal manifestations.

CONCLUSION: This scoping review highlights the scarcity of articles on cNPSLE and identifies significant knowledge gaps. The 1999 ACR NPSLE case definitions, while providing a framework for classifying NPSLE, are not formally validated in children, resulting in heterogeneity in existing cNPSLE research and diagnostic criteria. Per the GRADE methodology, most studies were retrospective, single center, with low quality of evidence. The range in prevalence and frequency of cNPSLE manifestations...

CONCLUSION: Major challenges persist, including scarce pediatric-specific trials, delayed translation of genetic findings, heterogeneous treatment responses, and unknown long-term safety. Addressing these gaps through multicenter cohorts, pediatric-specific randomized controlled trials, and biomarker-driven algorithms will transform cSLE management from adult-data extrapolation to molecular subtyping and tailored therapy.

CONCLUSION: Sunlight exposure was associated with disease-specific risks of SLE, RA, and gout.

CONCLUSION: The present findings suggest alterations in the endogenous antioxidant defense system in patients with IEI, characterized by reduced erythrocyte GPx activity and lower plasma selenium concentrations. The inverse association between selenium and usCRP concentrations suggests a potential link between selenium status and systemic inflammation. However, these findings should be interpreted cautiously, as inflammation may influence circulating selenium concentrations, and the...

Childhood-onset systemic lupus erythematosus (cSLE) occurs during a period of significant developmental changes in the immune system, when tolerance checkpoints and regulatory networks continue to mature. Compared with adult-onset SLE (aSLE), cSLE more frequently presents with strong type I interferon activity, BAFF-induced B-cell hyperactivation, and increased activity of T follicular helper cells that promote persistent generation of autoantibodies. These changes induce an...

Background/Objectives: Maternal systemic lupus erythematosus (SLE) is associated with preterm birth, but whether maternal disease activity influences early neonatal hematologic profiles beyond developmental immaturity remains unclear. We compared hematologic parameters between SLE-exposed preterm infants and maturity-matched controls and explored findings according to maternal SLE flare during pregnancy. Methods: This single-center retrospective matched-cohort study included 13 SLE-exposed...

No abstract

CONCLUSION: LPI-associated lupus-like immune dysregulation is rare and clinically heterogeneous. Accurate diagnosis requires an integrated assessment of genetic, metabolic, and immunologic data. Immunomodulatory therapy may be effective, but vigilance is essential due to infection risk and disease flares. Early recognition, management, and long-term follow-up are critical to improving prognosis.

CONCLUSION: Primary pediatric APS may initially present with devastating bilateral vaso-occlusive retinopathy. Early recognition through systematic antiphospholipid antibody testing and prompt multidisciplinary management are essential for preserving vision.

CONCLUSIONS: In Beijing, data from 2015-2022 indicate a rising incidence of pediatric SLE, an increasing burden of organ damage among hospitalized patients, and marked shifts in treatment patterns.

The early-life gut microbiome may influence susceptibility to antibody-mediated neonatal autoimmunity, but the underlying mechanisms remain poorly understood. We investigated whether gut microbial functional capacity and metabolites influence autoantibody-dependent immune activation in 90 neonates, including healthy controls, anti-Ro/La-exposed neonates without neonatal lupus erythematosus (No-NLE), and neonates with NLE (n = 30 per group). Shotgun metagenomic profiling demonstrated progressive...

CONCLUSIONS: The CSIS can be readily applied to gauge inflammation severity in the clinical setting. Changes in inflammation scores over time can also reflect disease progression or remission, allowing for timely interventions and better outcomes.

CONCLUSIONS: Children with IC and autoimmune conditions, particularly HCT and SLE, develop HZ more frequently and are more likely to experience HZ complications than other children. Varicella vaccination appears to reduce these risks.

Genome-wide association studies have identified genetic polymorphisms at 11p15 associated with systemic lupus erythematosus (lupus). Statistical fine mapping prioritizes a highly prevalent coding haplotype within IRF7. Analysis of ancient DNA confirms that this haplotype has persisted at high frequencies in the global population for millennia. The IRF7 risk haplotype is sufficient to increase nuclear localization of IRF7 and transcriptional activity downstream of pattern recognition receptor...

Early-phase studies of deep B cell depletion with anti-CD19 chimeric antigen receptor (CAR) T have produced prolonged, drug-free remission in refractory autoimmune disease. However, CAR T cell therapy requires lymphodepleting chemotherapy, autologous cell manufacturing and specialized infrastructure, limiting reach to a fraction of patients who might benefit. Bispecific T cell engagers (TCEs) offer a potent, off-the-shelf approach to deep B cell depletion; however, controlled clinical evaluation...

CONCLUSIONS: Compared to previous studies, these findings confirm variability in CL(RRT) with a potential contribution of circuit adsorption. Further clinical and in vitro studies are needed to better characterize caspofungin pharmacokinetics during CRRT and identify situations in which dose adjustment may be required.

Childhood-onset rheumatic diseases including Juvenile Idiopathic Arthritis (JIA), Juvenile Systemic Lupus Erythematosus (jSLE), and Juvenile Dermatomyositis (JDM) could impact growth, but this is not well described within the UK population, particularly over the long term. This study aims to compare the growth patterns of patients with JIA, jSLE, and JDM to those of their peers. This population-based cohort study used primary care data from the Clinical Practice Research Datalink (CPRD) with...

ObjectivesTo explore pregnancy-related concerns among women with systemic lupus erythematosus (SLE) and impact of the disease on desired family size.MethodCross-sectional, single-center study, including women with SLE diagnosed before menopause. Data were collected via questionnaires and medical records. Participants were classified into three groups: (i) those who never conceived (Group 1); (ii) those who had conceived before SLE diagnosis (Group 2), and (iii) those who had conceived at least...

Hypertensive disorders of pregnancy (HDP) remain a leading cause of maternal and perinatal morbidity and mortality worldwide, especially in low- and middle-income countries. Moreover, HDP are directly linked to an increased risk of long-term cardiometabolic and kidney disease in mothers and offspring. Since prevention, diagnosis, and treatment of HDP remain suboptimal globally, enhanced understanding and implementation of current guidelines on HDP present a substantial opportunity to...

CONCLUSIONS: A branched capillaroscopic pattern was observed more frequently in JDM and OM, particularly TIF1y+ JDM patients within our cohort. Microhaemorrhage density was the most changeable capillaroscopic feature and associated with markers of increased disease activity.

CONCLUSIONS: Ruxolitinib-based therapy was associated with sustained disease control and a significant glucocorticoid-sparing effect in pediatric RD-MAS. These findings support that ruxolitinib may serve as a promising steroid-sparing strategy with favorable efficacy and safety for pediatric RD-MAS, although larger prospective studies are warranted.

Human epididymal protein 4 (HE4), also known as protein four-disulfide core domain 2, is a secretory protein that is highly expressed in epithelial ovarian cancer. HE4 has higher specificity and sensitivity than traditional biomarkers in ovarian cancer, making it an effective marker for monitoring the progression of ovarian cancer. Given the similarities between the pathological processes in cancer and autoimmune diseases (ADs), namely overactivation of immune cells and involvement of...

CONCLUSIONS: Serum 25-(OH)D levels are affected by seasonal changes and closely correlated with disease activity in children with SLE. Patients with new childhood-onset SLE manifest abnormal peripheral lymphocyte subsets and insufficient 25-(OH)D.

Juvenile systemic lupus erythematosus (jSLE) is a rare disorder that presents with greater severity compared to adult systemic lupus erythematosus. It typically manifests in adolescent females with constitutional symptoms, multisystem involvement, and a malar rash. In this case, a 9-year-old African American pre-pubertal girl presented with a progressive facial and scalp rash, weight loss, night sweats without fever, and abdominal pain following recent penicillin exposure. On laboratory results...

Background/Objectives: Patients with childhood-onset rheumatic diseases may be at additional risk of developing other health conditions. This systematic review aimed to (i) identify and describe the comorbidities associated with three significant childhood-onset rheumatic diseases-Juvenile Idiopathic Arthritis (JIA), Juvenile-onset Systemic Lupus Erythematosus (jSLE), and Juvenile Dermatomyositis (JDM); (ii) describe comorbidity prevalence and incidence reported as apparent in childhood or...

[This corrects the article DOI: 10.3389/fimmu.2026.1850485.].

CONCLUSION: Tonsillectomy and/or adenoidectomy during childhood was associated with an increased risk of developing autoimmune diseases later in life. These findings suggest a possible association between tonsillar and adenoid immune function and later autoimmune disease risk.

CONCLUSIONS: Observations suggest that the private truncating TLR7 p.Glu834* variant associates with SLE-like clinical pictures through coupling with TLR8. Findings expand the list of SLE-associated disease mechanisms and support genetic risk stratification and consideration of TLR and/or IFN-targeted treatments.

Lupus nephritis (LN), a severe manifestation of systemic lupus erythematosus (SLE), is a heterogeneous disease driven by diverse immune and tissue cell types. We obtained 538,194 single-cell and 142,881 single-nuclear profiles from kidney biopsies of 155 patients with LN and 30 preimplantation transplant biopsy controls, along with 327,326 single-cell blood profiles. We characterized key stromal and immune cell types and cell states; moreover, we distinguished cell states that were tissue...

CONCLUSIONS: IBS was associated with a higher risk of diverse systemic rheumatic diseases. Further studies are warranted to clarify the mechanisms underlying these observed associations.

RATIONALE: DNASE1L3 deficiency is a rare autosomal-recessive monogenic form of systemic lupus erythematosus, characterized by defective clearance of extracellular DNA, leading to immune-complex formation, autoantibody production, and systemic inflammation. While early-onset lupus nephritis and hypocomplementemic urticarial vasculitis are hallmark features, the full clinical spectrum remains incompletely understood, particularly in pediatric populations.

Monogenic Pediatric systemic lupus erythematosus (SLE) secondary to complement deficiencies, including C1Q deficiency caused by C1QA mutations, is a rare and severe type of SLE that can be characterized by early onset and refractory disease. Inhibiting the interferon pathway has proved to be an effective treatment option, although there is little evidence in monogenic pediatric SLE. We describe a 10-year-old female with genetically-verified C1Q deficiency who had persistent and severe...

ObjectiveHematological involvement is a common manifestation of juvenile-onset systemic lupus erythematosus (jSLE). While nephrological and neurological involvement often guide treatment decisions in the early disease course, hematological findings may also impact morbidity and mortality. The aim of this study is to evaluate the clinical characteristics and treatment approaches of jSLE patients with hematological involvement.MethodThis retrospective, single-center cohort study was conducted on...

CONCLUSION: This data-driven and expert/patient consensus-based process has proposed 39 candidate items, some with subitems, and definitions for a revised SDI. Weighting of items and subitems is underway to develop a clinical scoring system.

CONCLUSION: CD8^(+) HLA-DRB1^(+) T cells represent a dysfunctional effector memory and proliferative population expanded in SLE. Type I IFN drives this paradoxical state by promoting exhaustion and impairing degranulation.

CONCLUSION: U.S. SLE-related mortality declined overall from 1999 to 2023, but the absolute burden remained substantial and unequally distributed across demographic and geographic strata. Persistent excess mortality among women, older adults, Black individuals, and residents of high-burden areas highlights the need for more equitable translation of advances in lupus care into real-world survival gains.

CONCLUSIONS: Maternal ADs are independent risk factors for offspring structural CHD. These findings underscore the importance of multidisciplinary counseling and specialized fetal echocardiographic screening for pregnant women with ADs to ensure early detection and management of potential cardiac defects in their offspring.

BACKGROUND AND OBJECTIVE: Paediatric-onset systemic lupus erythematosus presents a diagnostic and therapeutic challenge, particularly when the initial presentation is neurological or neuropsychiatric. The objective of this study is to describe the clinical characteristics, neuroimaging findings, therapeutic approach, and outcomes of a cohort of paediatric patients presenting with neurolupus as the first manifestation of the disease.

Dysregulated activation of the stimulator of interferon genes (STING) pathway underlies various inflammatory and autoimmune pathologies. Since STING oligomerization is fundamental to its biological function, targeted modulation of this polymerization process presents a promising therapeutic approach. However, achieving precise control over STING polymerization has remained a significant challenge. In this study, we report that benzofuran derivatives serve as molecular glues to potently inhibit...

Treatment strategies for pediatric rheumatic diseases have changed substantially over the past two decades, driven by the development of biologics and cytokine-targeted molecular therapy. Therapeutic approaches that modulate both innate and adaptive immune responses have improved prognosis in these immune-mediated disorders, and early diagnosis with timely intervention is associated with better outcomes. However, affected children often present with non-specific symptoms, and reliable biomarkers...

Single-cell transcriptomics technology offers unprecedented insights into molecular heterogeneity. However, capturing sample-level representations that reflect both systemic and cellular states remains challenging, especially when disease annotations are mostly available as coarse sample-level labels. Here, we introduce Phenoverse, an interpretable deep learning framework that learns sample-level disease state representations through cell type-aware residual encoding, prototype learning, and...

ObjectivesAlthough pregnancy and childbirth are critical for patients with systemic lupus erythematosus (SLE), patients who continue to parent their children during treatment have received little attention. In this study, we aimed to investigate the impact of parenting on the quality of life (QoL) of patients with SLE.MethodsThis cross-sectional study used data from the Lupus Registry of Nationwide Institutions. The participants were females with SLE. The exposure was parenting, categorized...

Complement component 2 deficiency (C2D) is the most common inherited complement deficiency and is associated with severe bacterial infections and autoimmunity. We describe a 14-year-old Ashkenazi Jewish boy presenting with bullous cutaneous lupus erythematosus and lupus nephritis, whose diagnosis of C2D was prompted by a family history of fatal pneumococcal meningitis in a sibling. Genetic analysis identified homozygosity for the recurrent C2 c.841_849 + 19del variant, and complement studies...

Childhood-onset lupus nephritis (cLN) should no longer be framed as a smaller version of adult lupus nephritis. It is a high-stakes pediatric kidney disease in which immune injury, treatment toxicity, growth, puberty, fertility, adherence, and transition to adult care intersect over decades. Approximately 10-20% of systemic lupus erythematosus begins in childhood, and 40-60% of affected children develop lupus nephritis. Regional cohorts report even higher renal involvement in some populations,...

ABSTRACT: This study aimed to assess whether co-treatment with gonadotropin-releasing hormone agonists during cyclophosphamide therapy protects ovarian function and preserves fertility in women with systemic lupus erythematosus. We performed a systematic review and meta-analysis of comparative cohort studies including premenopausal women with systemic lupus erythematosus treated with intravenous cyclophosphamide with or without gonadotropin-releasing hormone agonists. The primary outcome was...

Dysregulated immune responses and extensive inflammatory damage to several organs are hallmarks of systemic lupus erythematosus (SLE), a highly heterogeneous systemic autoimmune disease that significantly impairs patients' quality of life and prognosis. Persistent antigenic stimulation causes T cell exhaustion (Tex), a unique functional state that is carefully controlled by exogenous, temporal, and spatial factors. Tex plays a special bidirectional regulatory role in SLE: on the one hand, it...

CONCLUSION: This case illustrates the evolving nature of post-transplant immune dysregulation and suggests that declining donor chimerism may contribute to the reactivation of autoreactive lymphocytes, leading to atypical autoimmune manifestations. In pediatric patients presenting with unusual post-transplant symptoms, careful clinical assessment and immune monitoring may aid in timely diagnosis. Individualized immunosuppressive therapy can facilitate symptom control and support favorable...

Disseminated tuberculosis in children may present with systemic and immunologic features that overlap with autoimmune diseases, complicating diagnosis and treatment. We report the first pediatric case of microbiologically confirmed disseminated tuberculosis involving multiple sites associated with Poncet's disease, mimicking childhood-onset systemic lupus erythematosus (cSLE). A previously healthy five-year-old boy presented with a four-month history of persistent fever, weight loss, and...

Vasculitis refers to inflammation of the blood vessels, leading to tissue destruction and possible organ damage. Vasculitis is classified as small vessel, medium vessel or large vessel vasculitis and may be either idiopathic or associated with an underlying pathology/disease. Small vessel vasculitis can be seen secondary to systemic vasculitides such as anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (which includes microscopic polyangiitis, granulomatosis with polyangiitis, or...

CONCLUSIONS: This case highlights the diagnostic pitfalls of CNDI in infancy and underscores the pivotal role of early CP assessment and molecular genetic testing in distinguishing CNDI from CDI. Prompt recognition of CNDI is essential to avoid ineffective dDAVP therapy and to initiate a targeted multidisciplinary approach. Rare AQP2 mutations further expand the genotypic spectrum of CNDI and emphasize the need for heightened clinical awareness and early referral to specialized centers.

CONCLUSIONS: Our findings define males and children aged 10-14 years as priority groups for early ADHD detection and intervention. Moreover, we provide critical evidence to guide targeted ADHD prevention and management strategies across Asia.

CAR T-cell therapy has demonstrated the capacity to induce deep, drug-free remissions in patients with severe, refractory systemic lupus erythematosus (SLE), including those with lupus nephritis (LN). These observations challenge long-standing assumptions about the reversibility of autoimmune disease and raise a critical question: whether CAR T-cell therapy should remain a therapy of last resort or if trials could investigate use earlier in the disease course, when its disease-modifying...

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CONCLUSION: In Colombia, the prevalence of chronic kidney disease in the pediatric population is higher than that reported globally. However, the high proportion of cases with unknown etiology is notable; among identified etiologies, congenital anomalies of the kidney and urinary tract and glomerulopathies were the most frequent. These findings highlight the need to improve epidemiological records and establish diagnostic guidelines to determine the etiology of chronic kidney disease.

CONCLUSIONS AND RELEVANCE: In this binational cohort study of mother-child pairs in South Korea and Japan, the modest population-level association between maternal influenza infection during pregnancy and the risk of any neuropsychiatric disorder in offspring was attenuated and not statistically significant in sibling-comparison analyses in either cohort. These findings suggest that familial factors may account for the association observed in the population-level analysis.

IgA nephropathy (IgAN) is the most prevalent primary glomerular disease in adolescents, with 20% progressing to end-stage kidney disease within 20 years[1]. Targeted-release formulation (TRF) budesonide (Nefecon-IgAN-specific TRF-budesonide) is FDA-approved for adult IgAN but lacks evidence in adolescents[2]. We describe three adolescents with biopsy-proven IgAN treated with 16 mg/d Nefecon for 9-12 months (one patient with extension). All showed marked reductions in proteinuria and hematuria...

Anti-glomerular basement membrane (anti-GBM) glomerulonephritis is a rare cause of rapidly progressive glomerulonephritis in children. The disease is characterized by the formation of antibodies against the glomerular basement membrane, leading to diffuse glomerular injury and rapid deterioration of renal function if not diagnosed and treated promptly. We report the case of a 14 year-old girl who was admitted with acute-onset edema and hypertension. Initial investigations revealed hematuria,...

ObjectiveInfection is a major factor in morbidity and mortality among pediatric systemic lupus erythematosus (SLE) patients, particularly opportunistic infections (OI), which can result in severe clinical outcomes. There is a scarcity of data regarding OI in children with SLE in resource-limited areas. This study aimed to determine the incidence of OI in childhood SLE, describe their characteristics, and identify associated risk factors.MethodsThis study is a retrospective and prospective study...

Thromboembolic complications remain among the most serious complications of childhood idiopathic nephrotic syndrome (INS). Although their incidence is considerably lower than in adults, venous thromboembolism continues to cause substantial morbidity and occasional mortality, including pulmonary embolism, cerebral venous sinus thrombosis, and extensive deep venous thrombosis. Preventive management remains controversial because most affected children may not develop thrombosis, whereas...

BACKGROUND: Renal Cell Carcinoma (RCC) represents a growing global health burden, with rising incidence and mortality worldwide. Despite major therapeutic advances, access to novel systemic treatments remains uneven across countries and regions.

CONCLUSIONS: The observed high prevalence of undiagnosed UDT in Riyadh young adults exceeds typical adult estimates, indicating missed opportunities for early detection. Low awareness and sociocultural stigma are the main barriers; urgent actions include targeted education, routine genital screening in child and adolescent health encounters, standardized referral pathways, and individualized oncological surveillance or management for newly diagnosed adults.

CONCLUSIONS: SpHUS in New Zealand has increased since 2020, during a period of rising invasive pneumococcal disease, predominantly involving serotype 19A, with high acute severity and substantial long-term kidney morbidity. The burden is disproportionately borne by Māori and Pacific children, highlighting the need for ongoing surveillance and vaccine strategies responsive to local epidemiology.

No abstract

CONCLUSION: This study reaffirms that recombinant human growth hormone (rhGH) therapy is an effective treatment for growth failure in pediatric patients with chronic kidney disease (CKD) and those born small for gestational age (SGA). The decoupling of total circulating insulin-like growth factor-1 (IGF-1) from growth outcomes in patients with CKD highlights the role of growth hormone (GH) resistance-driven primarily by reduced bioavailability of free IGF-1 rather than absolute total IGF-1...

No abstract

Permanent immunity to varicella zoster virus (VZV) develops following infection in most patients, with reinfections extremely rare. Here, we report a 6-year-old boy with refractory nephrotic syndrome who contracted VZV infection during B-cell depletion after rituximab treatment. Although developing febrile neutropenia, he was promptly treated with acyclovir, which was successful. The VZV immunoglobulin G antibody titer was weakly positive (3.3) by enzyme immunoassay performed 42 days after the...

Deficiency of CFHR proteins and autoantibody-positive HUS (DEAP-HUS) is a rare autoimmune subtype of atypical HUS that is distinct from typical Shiga toxin-producing Escherichia coli (STEC)-associated HUS. We report the case of a 30-month-old child initially presenting with STEC-associated HUS whose severe clinical course prompted complement investigation despite confirmed STEC positivity. Markedly elevated anti-factor H antibody titers and a homozygous CFHR1-CFHR3 deletion led to...

CONCLUSIONS: Implementation of cardioprotective glucose-lowering therapies remains suboptimal in Italian outpatient cardiology practice, underscoring the need for a multidisciplinary approach integrating recommendations from CV, T2DM, and kidney guidelines to optimize implementation of therapy in patients with T2DM.

CONCLUSION: CDK2/9 inhibition shows promise as a therapeutic strategy for GBM. Fadraciclib exhibits multifaceted anti-tumor activity and spares nonmalignant cells of the central nervous system, supporting its further development in therapies that target transcriptional and immune pathways, as well as quiescent tumor cell populations.

Primary pyruvate dehydrogenase complex deficiency (PDCD) comprises a group of monogenic disorders caused by pathogenic variants in genes encoding subunits of, or regulatory components affecting, the pyruvate dehydrogenase complex. The clinical phenotype spans a broad continuum, ranging from early onset congenital lactic acidosis to infantile or childhood onset global developmental delay with epilepsy, through to more attenuated adult-onset neurological presentations. Reports from patients and...

CONCLUSION: Our review consolidates findings across multiple studies and highlights the profound vulnerability of ESKD patients to hazards. Evidence gaps are highlighted to guide future research and policy efforts.

Hypochondroplasia is a skeletal dysplasia characterized by disproportional short stature with rhizomelic limb shortening, caused by pathogenic variants of FGFR3, most frequently the p.Asn540Lys variant. However, affected individuals harbor a wide variety of pathogenic variants, accounting for the broad phenotypic spectrum of the disorder. Despite being closely related to achondroplasia, hypochondroplasia is a milder condition that was previously believed to be recognizable only in childhood, but...

Allele-specific expression (ASE), the preferential expression of one gene copy, is a key mechanism of genomic regulation. However, its role in human kidney disease remains poorly understood. In this study, we generated a high-quality, genome-wide ASE map using paired whole-genome sequencing and RNA sequencing from microdissected glomerular and tubulointerstitial compartments of patients with proteinuric kidney disease. We showed that the majority of common ASE events were deterministic and...

Reduced renal function has been associated with lower skeletal muscle mass and bone stiffness; however, the mechanisms linking renal function to skeletal muscle and bone health remain unclear. Fibroblast growth factor-21, whose circulating levels increase with impaired renal function, may be involved in these associations. This study examined whether renal function indices showed indirect associations with an appendicular lean mass index and bone stiffness through serum fibroblast growth...

A 7.6-year-old boy with hTTP had fever-induced hemorrhagic rash, MAHA, cerebral infarction, and renal impairment. After plasma therapy, symptoms were partially relieved; 9-year follow-up showed regular plasma transfusion was needed, with CKD Stage 3. Early genetic diagnosis is crucial; plasma therapy prevents recurrence, and gene therapy offers new hope for hTTP.

The GLP-1 receptor agonist semaglutide preserves kidney function in people with type 2 diabetes and chronic kidney disease, but the underlying mechanisms are unclear. Here we report a 52-week randomized trial of subcutaneous semaglutide 1 mg once weekly versus placebo (n = 106 (n = 25 women, n = 81 men)) in participants with type 2 diabetes and chronic kidney disease. To identify kidney-specific mechanisms of action for semaglutide, we performed integrated multiparametric magnetic resonance...

Primary prostate rhabdomyosarcoma is a rare, aggressive malignancy predominantly affecting children and adolescents. We report a 14-year-old male presenting with progressive gross hematuria and lower abdominal pain. Imaging revealed a large heterogeneous prostatic mass extending to the bladder base with pelvic lymphadenopathy. Prostate biopsy demonstrated spindle-shaped tumor cells in a myxoid background, consistent with rhabdomyosarcoma. The patient received chemotherapy and supportive...

CONCLUSION: PRAKI is serious complication of pregnancy, it requires immediate address to the problem. Its markedly different (high) prevalence in developing world indicates impact of socioeconomic status and provision of basic health services in this part of world. Training of health care providers at basic health units with improved antenatal care, skilled birth attendance, timely addressing the problem and referrals to appropriate services must be considered seriously.

This study demonstrates that gamma-aminobutyric acid (GABA) ameliorates diabetic kidney disease (DKD) by modulating macrophage-driven inflammation and podocyte injury through the JAML/FPR2 signaling axis. In streptozotocin (STZ)-induced DKD mice, GABA administration significantly improved renal function by reducing serum creatinine, urea nitrogen, 24-hour urine protein, attenuated glomerular hypertrophy/mesangial expansion, and suppressed pro-inflammatory cytokine production (TNF-α, IL-1β, iNOS)...

CONCLUSION: NGR1 directly binds CKLF1, thereby suppressing the CCR5/ER stress/NLRP3 cascade and attenuating neuronal pyroptosis. These findings establish a mechanistic framework supporting the therapeutic potential of NGR1 in ischemic stroke.

CONCLUSION: CKD enhances cerebrovascular contractile responses to vasoconstrictors, and this effect is mediated by activation of the FGF2 pathway. Targeting the FGF2 pathway may provide treatment of cerebrovascular dysfunction in CKD.

CONCLUSION: Reduced MPA exposure was associated with MMF doses < 20 mg·kg⁻¹·day⁻¹, hypoproteinemia, preserved or mildly impaired renal function, and HNF1A rs56097722 C/C or CYP2C8 rs1058932 G/G genotypes. CES2 rs11075646 C/C tended to correlate with a shorter MPA T₁/₂. The validated LSS models are recommended for estimating MPA-AUC(0-12 h) in pediatric LN, which are expected to simplify the therapeutic drug monitoring process.

CONCLUSIONS: This survey reveals important knowledge and comfort gaps in DD organ acceptance. Targeted education could increase organ utilization and help address transplantation shortages.

Type 2 diabetes (T2D) is associated with a substantial burden of cardiovascular and renal complications. Although current evidence supports early implementation of organ-protective strategies, therapeutic inertia and uncertainty regarding guideline implementation may delay treatment intensification. The goal of this review is to discuss the rationale for early cardiorenal protection in T2D and to explore real-world perspectives on the use of SGLT2 inhibitors and GLP-1 receptor agonists through...

CONCLUSIONS: Model-informed precision dosing-guided limited sampling strategies are feasible for estimation of current exposure using similar sampling times for mycophenolic acid and tacrolimus. Accurate long-term prediction is not possible, underscoring the need for repeated therapeutic drug monitoring.

CONCLUSIONS: Tamsulosin treatment following SWL for renal stones in children showed trends for increasing SFR and decreasing complications in comparison with control group. However, statistically significant differences were not achieved.

Type 2 diabetes (T2D) is a highly heterogeneous metabolic trait, with a higher prevalence in East Asians. Despite extensive genetic studies focusing mainly on Europeans, how genetic risk for T2D is distributed across biological pathways in East Asians in comparison with Europeans remains incompletely understood. Here, we show results from what is, to our knowledge, the largest genome-wide association study in East Asians, including 596,778 individuals, with a direct comparison to a European...

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Acute kidney injury (AKI) is a prevalent clinical syndrome associated with high mortality and lacking effective therapies, largely due to incomplete understanding of its pathogenic mechanisms. Proximal tubular epithelial cells (PTECs), with their high metabolic demand, represent the primary targets of injury in AKI. We identified β-ureidopropionase 1 (Upb1), a key enzyme in pyrimidine catabolism, as being specifically enriched in PTECs but markedly downregulated upon AKI. Genetic silencing of...

Urinary tract infections (UTIs) are among the most common bacterial infections and pose a significant global health challenge in children. UTIs can cause a range of conditions from cystitis and pyelonephritis to bacteraemia. Current methods for diagnosing UTI lack adequate sensitivity and specificity and are time-consuming, driving demand for improved approaches. Although most UTIs resolve with antibiotic therapy, some children develop recurrent UTIs due to multidrug-resistant organisms and...

Polygenic risk scores are widely used for predicting genetic risk across complex diseases and traits, and several pre-trained models have been developed. Few approaches leverage these pre-trained polygenic risk scores to further refine predictive performance. Here, we present Adaptive Boosting of pre-trained Polygenic Risk Socres, a fine-tuning framework that refines pre-trained polygenic risk score models through adaptive variable selection and model boosting to identify additional predictive...

Urinary tract infection (UTI) is one of the most common bacterial infections in infants and young children, with a prevalence of 7% in infants with fever. This clinical practice guideline (CPG) provides an update of the literature and clinical recommendations of the 2011 American Academy of Pediatrics (AAP) CPG on diagnosing and managing UTI in infants and children. It is designed to provide guidance for pediatricians and other pediatric clinicians on the diagnosis and management of UTIs in...

Accurate diagnosis is essential to appropriate care. Although urinary tract infection (UTI) is one of the most common bacterial infections in children, there is no gold standard for its diagnosis. During the American Academy of Pediatrics' revision of its Clinical Practice Guideline for the Diagnosis and Treatment of Urinary Tract Infection in Children from Eight Days to Five Years of Age, the Guideline panel established a revised UTI definition through an iterative discussion process. This...

CONCLUSION: Our study suggests a better response to lumasiran in children independent of the underlying genotype. In patients with pyridoxine sensitivity, we suggest continuing or initiating pyridoxine even after lumasiran initiation. After lumasiran initiation, a close follow-up and re-evaluation should be systematically performed.

BackgroundWe evaluated longitudinal kidney function in children with perinatally acquired HIV (CWH) compared with HIV-negative controls.MethodsWe analyzed data from an observational study in Johannesburg, South Africa (2013-2018), including 220 CWH on non-tenofovir regimens and 220 controls. Baseline and follow-up visits with blood, urine, and dual-energy X-ray absorptiometry (DXA) were conducted a median of 3.7 years apart. Kidney function was assessed using serum creatinine-based (revised...

Psoriasis is a heritable, common chronic autoimmune disorder characterized by cycles of remission and flare-ups. Here, we jointly analyze genomic and single-cell transcriptomic data to elucidate the genetic and molecular architecture of psoriasis. We perform a large-scale genome-wide meta-analysis of individuals of European ancestry (n = 1,131,685) and identify 125 independent susceptibility loci associated with psoriasis, including 17 previously unreported loci. Integrating these findings with...

Preemptive pharmacogenetics (PGx) testing, which leverages genetic variation to predict drug response and toxicity, represents a pivotal advancement in precision medicine. By predicting drug-gene interactions and guiding precision dosing, it demonstrates significant potential to enhance drug safety and efficacy. However, its integration into routine clinical practice still faces a substantial translational gap. This review examines preemptive PGx testing implementation through an implementation...

Idiopathic nephrotic syndrome (INS) is the most common chronic glomerular disease in children. Corticosteroids remain first-line therapy, and the initial response, differentiating steroid-sensitive (SSNS) from steroid-resistant (SRNS) forms, is the strongest prognostic factor. While most childhood-onset INS results from an incompletely defined dysregulation of the immune system, up to one-third of children with initial SRNS have a monogenic etiology. SSNS typically follows a relapsing-remitting...

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BACKGROUND: Eosinophilic granulomatosis with polyangiitis (EGPA) is an ANCA-associated vasculitis characterized by eosinophilic asthma and ENT involvement. Both mepolizumab and benralizumab have demonstrated efficacy in EGPA and are now considered front-line options. In patients who do not respond to mepolizumab, benralizumab may be a valuable alternative owing to its enhanced depletion of eosinophils. We assessed the efficacy for and safety of switching from mepolizumab to benralizumab in EGPA.

Childhood obesity is consistently associated with earlier pubertal timing, particularly in girls, whereas its relationship with true central precocious puberty (CPP), defined by premature activation of the hypothalamic-pituitary-gonadal (HPG) axis, is less clearly established. An increased frequency of CPP diagnoses and referrals was reported during the COVID-19 pandemic, alongside changes in body weight, lifestyle, sleep, and psychosocial exposures. Human studies link excess adiposity to...

CONCLUSION: This review provides insight into the utilization of PFTs and 6MWT and the frequency of test abnormalities in patients with PCC. Despite existing evidence, there is a need for future studies to assess the diagnostic test accuracy of these tests in PCC.

Nanomedicine has progressed far beyond its early role as an experimental drug-carrier toolbox and today stands as a clinically validated enabling technology. Liposomal formulations and albumin-bound nanoparticles have transformed cancer therapy, while lipid nanoparticle (LNP) platforms accelerated the rapid development and global deployment of SARS-CoV-2 mRNA vaccines-demonstrating how nanoscale engineering can reshape therapeutic response, manufacturing speed, and public health impact. With...

CONCLUSIONS: MIS-C with cardiovascular involvement has a substantial incidence of acute myocardial dysfunction, particularly in patients with higher levels of TroponinT and BNP and in those who developed MAS. Cardiovascular abnormalities are usually transient. However, in 10% of cases, mild abnormalities are still detected by cardiovascular imaging in the long-term, without any correlation with the severity of the acute phase.

CONCLUSIONS: Our nomogram model provides a novel tool for the early identification of children at high risk of ANE, assisting clinicians in formulating timely interventions to improve patient prognosis.

Interferon-ω (IFN-ω) is a member of the human type I interferon family that has historically been overshadowed by IFN-α and IFN-β. Recent human "natural perturbations", most notably selective neutralization of IFN-ω by autoantibodies in life-threatening viral infections, have renewed interest in this comparatively understudied cytokine and indicate that its antiviral activity may not always be fully compensated in defined clinical settings. This renewed focus has prompted reassessment of its...

Wastewater-based epidemiology (WBE) has been widely used to track SARS-CoV-2 transmission using viral RNA, but its capacity to capture population immunity remains poorly defined. Although antibodies can be recovered from wastewater, the relationship between wastewater antibody signals, individual-level shedding dynamics, and community-wide infection and immunity patterns has not been systematically established. We conducted a three-year longitudinal study (2020-2022) across urban and rural...

CONCLUSION: Overall, AAN-I-IFNs were detected in 20/195 (10.3%) of Moroccan patients with life-threatening COVID-19 and in 20/164 (12.2%) patients with severe or critical disease, whereas none were detected in patients with mild or moderate COVID-19.

GST-HG171 is an orally administered inhibitor of the 3C-like protease that has been approved in China for the treatment of mild to moderate COVID-19. When co-administered with ritonavir, GST-HG171 is eliminated by the kidney. Therefore, this study evaluated the impact of renal impairment on its pharmacokinetics (PK), safety, and tolerability. A total of 24 participants were enrolled: 8 with normal renal function, 8 with mild renal impairment, and 8 with moderate renal impairment. Participants...

CONCLUSION: ESKD involvement in U.S. mortality rose from 1999 to 2023 with marked subgroup inequities and shifts in underlying-cause pathways. Monitoring ESKD as a contributing cause, together with cause-structure and scale-penetration analyses, provides information beyond underlying-cause surveillance to support integrated prevention addressing CKD progression and its cardiometabolic and infectious complications.

No abstract

India's immunization program focuses predominantly on children, leaving adults vulnerable to vaccine-preventable diseases (VPDs). The COVID-19 pandemic further disrupted routine vaccination. A life course approach (LCA) is needed to address these gaps. However, implementation of adult vaccination programs in low- and middle-income countries (LMICs) remains challenged by inequities in healthcare access, infrastructural limitations, and variable awareness regarding adult immunization. A 16-member...

Background: Post-COVID-19 condition (PCC) is a complication following acute COVID-19 infection, which may lead to long-term cardiac abnormalities. This review aimed to assess the prevalence of structural/functional deviations in echocardiography in individuals with PCC compared to patients without PCC. Methods: We searched three databases. Two reviewers independently screened articles using LASER Al and extracted relevant data using a piloted Excel sheet. We performed meta-analysis using...

CONCLUSIONS: The COVID-19 pandemic has had a significant impact on the incidence of HUS in the pediatric population. SARS-CoV-2 infection most markedly increases the risk of neurological complications but does not affect overall mortality.

BACKGROUND: Enteric infectious diseases claim more than 1 million lives annually and are among the top ten causes of death in children younger than 5 years. Remarkable global investment has been dedicated to enteric infectious disease prevention and control; however, the shifting global health landscape is testing the continuance of progress. To evaluate the current status and guide future interventions, we present the latest epidemiological estimates of enteric infectious diseases from the...

The activation of pattern recognition receptors (PRRs) orchestrates inflammation and regulates adaptive immunity. To test whether tuning inflammation through PRR stimulation enhanced the efficacy of mRNA vaccines, we combined an mRNA-based vaccine generated against the ancestral spike protein of SARS-CoV-2 with mannadjuvant, a formulation of fungal mannan and aluminum hydroxide targeting the PRR dectin-2. In mice and non-human primates, mannadjuvant increased the magnitude and durability of the...

CONCLUSIONS: S. pneumoniae was detected in 20.4% Iranian children's NP samples, with the serotype 23 F dominancy. Emerging of 15B and lower PCVs prediction coverage compared to other unvaccinated countries, might stem from limited administration of PCV13, environmental/epidemiological factors, and COVID-19-related shifts in colonization. Ongoing surveillance of pneumococcal carriage, serotype distribution, and antimicrobial resistance are required due to the existence of antibiotic resistance...

Multisystem inflammatory syndrome in children (MIS-C) is a severe complication of SARS-CoV-2 infection. The long-term impact on vascular and cardiac health in post-MIS-C patients remains unclear. We aimed to evaluate subclinical cardiovascular changes in children two years after MIS-C. This cross-sectional study included 42 children diagnosed with MIS-C (29 boys, 13 girls, median age 10.7 years) and 38 age- and sex-matched healthy controls. Participants underwent comprehensive cardiovascular...

PURPOSE: Canadian researchers have made significant contributions to the advancement of organ transplantation globally. The COVID-19 pandemic made transparent the importance of reflecting on our accomplishments and the current and future challenges that limit the lives of our patients and to celebrate individual and collective achievement.

Multisystem inflammatory syndrome in children (MIS-C) is a rare hyperinflammatory disorder that occurs in previously healthy pediatric patients after severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) exposure or mild infection. MIS-C typically has mild kidney symptoms that resolve quickly. The kidney biopsy experience in pediatric coronavirus disease 2019 (COVID-19) and MIS-C is limited in the literature. Here, we describe a 17-year-old SARS-CoV-2 positive boy with features of MIS-C...

BACKGROUND: Although individual rare and complex diseases (RDs) affect small patient populations, together they impact an estimated 27–36 million people across the European Union. Addressing this major public health challenge has been a long-term priority for the European Union, leading to the establishment of the European Reference Networks (ERNs) in 2017. MAIN BODY: ERNs are cross-border networks connecting clinical expert centres to share knowledge, improve and harmonise diagnosis and care...

CONCLUSION: SOT recipients in Canada, especially lung transplant recipients, experience high rates of hospitalization, SCU admission, and in-hospital mortality. Notable differences observed between organ subtypes for admissions with and without a COVID-19 diagnosis may reflect differences in immunosuppressive medication regimens, informing areas for future research.

CONCLUSIONS AND RELEVANCE: This multicenter cohort study found that among severely ill adults hospitalized with babesiosis, the adjusted risk of in-hospital death or 30-day readmission was nearly 5-fold lower in those treated with ET vs those not treated with ET. These data support ET for severely ill patients with babesiosis, although the findings may be susceptible to unmeasured confounding. Further research is needed to identify which patients are most likely to benefit.

CONCLUSIONS: In this Registry, CytoSorb® therapy was associated with significant early clinical benefits in patients with septic shock, including hemodynamic stabilization and improved fluid balance. Further systematic research is needed to optimize its use and identify patient populations that benefit most.

CONCLUSIONS: hMPV causes clinically significant disease in patients with hematological malignancy, often necessitating hospital and ICU care, and leading to mortality. In the absence of specific treatments or vaccines, this virus remains an underrecognized pathogen in patients with hematological malignancy. Enhanced clinical awareness and investment in diagnostics, prevention, and therapeutics are needed.

Kawasaki disease (KD) and multisystem inflammatory syndrome in children (MIS-C), associated with SARS-CoV-2 infection share overlapping clinical and laboratory features, making differential diagnosis particularly challenging during the COVID-19 pandemic. Accurate distinction is essential due to differences in pathophysiology, management strategies, and cardiovascular outcomes. We report the case of a 7-year-old boy presenting with prolonged fever, mucocutaneous manifestations, arthritis, and...

Pediatric patients with SARS-CoV-2 infection are at an increased risk of severe disease and adverse outcomes. Nevertheless, comprehensive data on COVID-19 vaccine effectiveness (VE) in children with diabetes during the post-pandemic period remain limited. This study assessed the VE against severe COVID-19 outcomes during both the pandemic and post-pandemic phases in children with and without diabetes mellitus (DM). A cohort study based on population data was carried out, including all patients...

CONCLUSIONS: The rate of paediatric KT in Europe has remained stable, with differences between GDP groups. Low-GDP countries had the lowest KT rates, but with an increasing trend over time. Opportunities to further increase access to paediatric KT should be explored.

CONCLUSION: Mean ISE performance declined from 2016 to 2023 across all PGY levels, with the greatest decreases observed in general urology subtopics. Scores after 2020 were lower across most PGY levels and content domains, while performance on repeated questions remained stable. These trends may reflect increased examination difficulty, expanded content, changes in question composition, evolving study strategies, and variability in clinical exposure rather than diminished knowledge.

CONCLUSIONS: Our results suggest that vaccination provided similar protection against COVID-19-related mortality in individuals with and without schizophrenia. However, the magnitude of the intervention effect was double for individuals with schizophrenia due to their higher baseline risk.

CONCLUSIONS: Our results confirm the high transmission of subclinical disease among household contacts, which may vary due to psychosocial factors. This reinforces the importance of isolating cases to prevent transmission, regardless of vaccination status.

Respiratory pathogen dynamics in western China following COVID-19 restrictions remain poorly characterized. We analyzed 50,247 specimens across 14 pathogens from January 2020-December 2024 using multiplex PCR at Sichuan Provincial People's Hospital. Pathogen positivity is increased by 314% post-pandemic, with H1N1 showing 1,826% and Mycoplasma pneumoniae showing 519% increases. Human rhinovirus exhibited highest overall detection at 9.05%. Correlation analysis revealed 89% of pathogen pairs...

BACKGROUND: Lower respiratory infections (LRIs) remain the world's leading infectious cause of death. This analysis from the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2023 provides global, regional, and national estimates of LRI incidence, mortality, and disability-adjusted life-years (DALYs), with attribution to 26 pathogens, including 11 newly modelled pathogens, across 204 countries and territories from 1990 to 2023. With new data and revised modelling techniques,...

CONCLUSION: The intensity and the nature of the anti-viral immune alterations depend on the type and the degree of the immune impairment. Evaluating the specific host immune actors responsible for maintaining a protective response appears essential to adapt vaccine strategy in these patients, opening the door to new, more personalized vaccination approaches.

Avian influenza A virus (IAV) H5N1 is an emerging threat of human pandemic. We describe a 71-year-old man who died of H5N1 pneumonia in Louisiana and whose blood contained autoantibodies neutralizing type I IFNs (AAN-I-IFNs), including the 12 IFN-α subtypes (1-10 ng/ml) and IFN-ω (100 pg/ml). Causality between these AAN-I-IFN and lethal outcome of avian influenza in this patient is based on (1) our previous report that AA-I-IFN underlie about 5% of cases of critical pneumonia triggered by...

Viral infections are well-known causes of systemic illness in children, but their kidney involvement, particularly acute tubulointerstitial nephritis (TIN), remain underdiagnosed and clinically underestimated. A wide range of viruses has been implicated in pediatric TIN, including Epstein-Barr virus, cytomegalovirus, BK virus, parvovirus B19, respiratory syncytial virus, and SARS-CoV-2. Among these, adenovirus stands out for its potential to cause severe kidney injury. Delayed diagnosis remains...

Coronavirus disease 2019 (COVID-19) vaccine has been extended to children 6 months and older and boosters to those 12 years and older, and vaccine safety continues to be monitored. A 12-year-old female presented with non-oliguric acute kidney injury 6 days after receiving the second dose of Pfizer COVID-19 vaccine. Renal biopsy revealed idiopathic severe acute tubulointerstitial nephritis (TIN), which had a temporal relationship with the second dose of the COVID-19 vaccine. Patient received...

CONCLUSION: Critical pulmonary impairment after mild COVID-19 is rarely detected by spirometry and DLCO but may affect the LCI. Within 3 months, impaired pulmonary function improved in most patients. Children were less affected by severe pulmonary sequelae and respiratory complaints than adults. Complaints like dyspnoea or chest pain may be an early indicator of lung function impairment, suggesting that further diagnostic tests for treatable post-COVID-19 complications may be needed....

COVID-19 signs and symptoms varied among patients, with the most common being fever, fatigue, sore throat, cough, anorexia, and shortness of breath. (1) Background: This study aimed to assess effort, dyspnea, and cooperation scores in patients with mild and moderate post-COVID-19 forms, both at baseline and after completing a structured physical recovery program. (2) Methods: Our study included 160 post-COVID-19 patients who had experienced mild or moderate disease. (3) Results: Effort and...

CONCLUSION: This study comprehensively analyzes the current research landscape and identifies key hotspots in influenza co-infection. The findings offer crucial guidance for future studies in this field.

CONCLUSION: 15-19% of youth and young adults with CKD endorsed elevated rates of C19-associated emotional distress and worry. Findings suggest that children with poorer kidney function and lower income were more likely to endorse distress and worry related to C19.

CONCLUSION: In summary, ARPKD causes significantly impaired hrQOL, psychosocial problems and caregiver burden, which were equal to, if not greater than, that of controls with more advanced kidney failure. Treatment modality and developmental delay were the most important risk factors.

CONCLUSIONS: Between 2020 and 2021, COVID-19 intervention measures significantly lowered the transmission of Mycoplasma pneumoniae. However, data from 2022 suggest a risk of rebound. We need to be alert the possible resurgence of Mycoplasma pneumoniae in children. This calls for clinical action: increasing polymerase chain reaction (PCR) testing during the seasonal peak and focusing on monitoring school-aged children and girls.

INTRODUCTION: Our aim is to develop a Framework of Measurement for people living with Long COVID and their caregivers for use in Long COVID research and clinical practice. Specifically, we will characterise evidence pertaining to outcome measurement and identify implementation considerations for use of outcome measures among adults and children living with Long COVID and their caregivers.

Prognostic scores that help allocate resources and time to the most critical patients could have potentially improved the response to the SARS-CoV-2 pandemic. We assessed the performance of five risk scores in predicting death or transfer to the intensive care unit (ICU) or sub-intensive care unit (SICU) in hospitalised patients with SARS-CoV-2 infection, with the three aims of retrospectively analysing the effectiveness of these tools, identifying frail patients at risk of death or...

Advanced age is the most important risk factor for severe disease or death from COVID-19, but a thorough mechanistic understanding of the molecular and cellular underpinnings is lacking. Multi-omics analysis of 164 samples from SARS-CoV-2-infected persons aged 1 to 84 years reveals a rewiring of type I interferon (IFN) signaling with a gradual shift from signal transducer and activator of transcription 1 (STAT1) to STAT3 activation in monocytes, CD4^(+) T cells, and B cells with increasing age....

Pediatric solid organ transplant candidates and recipients remain undervaccinated and at higher risk of vaccine preventable illness (VPI) than the general population. An American Society of Transplantation Pediatric Community of Practice Controversies Conference was held in October 2023 to discuss opportunities to improve vaccine uptake and decrease rates of VPI in this population. Undervaccination results from failures at different levels. Clinician misconceptions about when vaccines may be...

CONCLUSION: This study underscores the need for personalized follow-up care for pediatric patients recovering from COVID-19. Comprehensive monitoring and support programs are crucial for addressing the specific complications observed in this population, thereby ensuring improved long-term outcomes.

Nicotinamide adenine dinucleotide (NAD^(+)) plays an important role in the innate immune response and is depleted during SARS-CoV-2 infection due to increased turnover. It is unknown whether treatment with NAD^(+) precursors can safely raise NAD^(+) levels in patients with COVID-19. To determine whether MIB-626 (β-nicotinamide mononucleotide), an NAD^(+) precursor, can safely increase blood NAD^(+) levels and attenuate acute kidney injury (AKI) and inflammation in hospitalized patients with...

CONCLUSIONS: Pre-HDF achieves superior removal of middle and larger-middle MW uraemic retention solutes and was associated with a more favorable inflammatory profile, without compromising small MW retention solute removal or albumin levels, compared to post-HDF. Pre-HDF may be associated with higher blood pressure in a sub-set of patients, potentially due to greater sodium load from higher replacement volumes.

CONCLUSIONS: This ERKNet survey identifies prevailing practices and variation in antibiotic prophylaxis for patients receiving complement-inhibition therapy. Based on these findings, we propose consensus guidance to support harmonized, risk-adapted prophylaxis strategies across pediatric and adult populations. These guidance statements aim to address an important unmet need in infection prevention among complement-inhibited patients.

Translating the 2024 KDIGO (Kidney Disease: Improving Global Outcomes) lupus nephritis (LN) guideline update into routine care remains challenging. While clinical trial data support early multi-agent combination therapy for nephritis to optimize kidney protection, real-world implementation is constrained by disease heterogeneity, disparities in access to advanced therapeutics, and limited incorporation of cost-effectiveness considerations. In this perspective article, we propose a pragmatic...

Systemic lupus erythematosus (SLE) guidelines predominantly focus on common major organ involvement. An international taskforce from three SLE expert groups (European Reference Network on Connective Tissue and Musculoskeletal Diseases, Systemic Lupus International Collaborating Clinics, and the European Lupus Society) previously developed consensus therapeutic strategies for 24 rare SLE manifestations. Here, 77 participants contributed to the development of consensus therapeutic strategies for...

Autoimmune diseases remain a major cause of chronic morbidity despite substantial advances in targeted immunomodulatory therapies. In many autoantibody-mediated conditions, disease refractoriness and relapse are driven by long-lived plasma cells, which are largely resistant to conventional immunosuppression and upstream B cell-directed strategies. CD38, a surface molecule highly expressed on plasmablasts and plasma cells and functionally involved in immunometabolic regulation, has emerged as a...

CONCLUSION: We describe a previously unrecognised pancreatic manifestation of ciliopathies, which we name ciliogenic pancreatopathy. Patients with known ciliopathy-causing mutations should be evaluated for this pancreatic condition, particularly those with kidney disease, as concomitant exocrine pancreatic insufficiency may further compromise renal function or the outcome of kidney graft.

Adolescents and young adults with childhood-onset lower urinary tract symptoms (LUTS) face significant challenges transitioning from paediatric to adult urological care, a period often marked by disrupted care continuity, reduced adherence, and psychosocial stress. This transition remains poorly studied in urology. STREAMWAY aims to explore adolescents' perceptions, attitudes, and lived experiences during this phase. This exploratory qualitative study uses semi-structured interviews,...

CONCLUSIONS: These findings highlight a progressive shift towards individualised, disease activity-guided prescribing, alongside growing confidence in the relative safety of several antirheumatic drugs. Expert surveys help define consensus, identify uncertainties, and guide future practice.

Genome and exome sequencing have become central to diagnosing rare hereditary diseases, but each test returns thousands of variants that a clinical scientist must review by hand to find the one responsible for the patient's condition. This manual interpretation is the main bottleneck in clinical genomics. To reduce it, we developed DiagAI, a machine-learning system that ranks the variants found in a patient and returns a short list of the most likely causal candidates. DiagAI combines three...

CONCLUSIONS: The observational study showed that the achievement of CSR in children with IgAN was associated with better eGFR outcome.

INTRODUCTION: Cystinuria is a rare inherited disorder characterized by recurrent cystine stone formation. When lifestyle modification and urine alkalinization fail, cystine-binding medication such as tiopronin and D-penicillamine are indicated. Despite proven benefit, their accessibility across Europe appears limited. We hypothesized that access to this medication is restricted and varies substantially between European countries.

CONCLUSIONS: T2DM and depression cluster with low educational level, with patterns differing by sex and migration background. The syndemic framework highlights the need for integrated interventions addressing both conditions and social determinants to promote health equity.

CONCLUSION: IgM aPL may be associated with a distinct APS phenotype characterized by microvascular involvement, including livedo and WML. These findings support the need for further research into the clinical implications of IgM isotype positivity in APS.

Acute kidney injury (AKI) is common in hospitalized patients, and its incidence is rising sharply in intensive care units. It is associated with significant morbidity and mortality due to a profound change in its epidemiological profile - multifactorial in origin, often septic, and associated with other organ failures. The mortality rate reaches 30-50% in the most severe forms, particularly when AKI requires renal replacement therapy (RRT). Temporary RRT, when indicated, must be part of an...

Glomerular diseases are complex conditions, many of which have a genetic basis. However, although some genetic variants can affect glomerular and thereby kidney function, not all identified variants are pathogenic. The process of evaluating genetic and experimental evidence to determine the validity of gene-disease relationships is known as gene curation, and it is critical for the identification of genes that should be examined in diagnostic tests and used to guide clinical management. Gene...

CONCLUSIONS: Serum IgG from both classified and non-classifiable APS may react with other β2GPI domains than DI and DIV-V. Anti-β2GPI domain selectivity can explain discordant results among diagnostic assays.

CONCLUSIONS AND IMPLICATIONS OF KEY FINDINGS: Patients managed with PEX achieved hematological remission faster than those on ECZ; the time to renal recovery was similar. Given the precautions and vigilance necessary with complement blockade, PEX appears to be a satisfactory initial choice for managing anti-FH associated HUS, particularly in low-resource settings. Prospective trials should compare the efficacy, safety and healthcare costs of these strategies in managing patients with anti-FH...

Cardiologists consider degenerative or infectious causes when evaluating valvular heart disease. However, the role of autoimmune disorders, though less frequent, remains clinically significant. This report describes a young male patient presenting with persistent coronary disease and a suspected valvular cusp perforation initially attributed to infective endocarditis, which ultimately proved to be a manifestation of IgG4-related disease. IgG4-related disease is a rare condition, more prevalent...

X-linked hypophosphatemia (XLH) is a rare genetic condition in which excess fibroblast growth factor 23 causes renal phosphate wasting, leading to skeletal morbidities. Patients experience musculoskeletal pain, stiffness, and fatigue, with impaired physical function and health-related quality of life (HRQL). Burosumab has been available in France for the treatment of XLH since 2021; European treatment guidelines suggest use in adults with pseudofractures or with insufficient response and/or...

CONCLUSION: Our study indicates that girls predominate among children with anti-GBM disease and that children have a better outcome in terms of eGFR than adults, which is at least partly because of better eGFR values at diagnosis. The need for dialysis is a strong predictor of outcome, regardless of age.

BACKGROUND: Education in medical and nursing curricula aims to build a strong theoretical foundation and practical skills, essential for addressing the complex challenges of healthcare delivery. Interprofessional learning fosters teamwork and improves patient care by enhancing collaboration across disciplines. Simulation-based education provides a safe environment for critical thinking and interprofessional collaboration, particularly in procedures like arterial blood gas (ABG) testing. Despite...

CONCLUSIONS: LCN2 was induced by intracellular UMOD aggregates and ER stress in various models of ADTKD- UMOD . Although it influenced iron handling, LCN2 did not drive fibrosis or inflammation, supporting a role as a biomarker of toxic proteinopathy rather than a therapeutic target.

CONCLUSION: Our results in this primarily paediatric cohort highlight the importance of metabolic control and support increasing the blood bicarbonate level for therapy to 24 mmol/L to improve growth. Compared with the overall population, patients with dRTA are at higher risk of CKD from childhood, particularly if they have underlying SLC4A1 variants.

CONCLUSIONS: In this single-center experience, VCs reduced costs and travel burden while being acceptable to GPs. However, many GPs were unaware of this pathway, underscoring the need for promotion and integration in primary-care workflows. Future multicentre studies should evaluate clinical outcomes including avoidable face-to-face visits, hospitalizations, time to advice) and include patient and nephrologist perspective.

CONCLUSION: EKFC provides a continuous and robust equation for eGFR estimation across the lifespan, offering an advantage over CKD-EPI.

BACKGROUND: Enamel Renal Syndrome (ERS) is a rare disorder characterized by a combination of dental and renal abnormalities, including stones and hypophosphatemia. ERS is genetically heterogeneous. METHODS: We report on four pediatric cases of homozygous LoF FAM20A mutations (2 families). Biological (including oral calcium load) and imaging (dental and renal) data were reviewed. Results are presented as median(range). RESULTS: All patients were referred for renal screening by the specialized...

CONCLUSIONS: APSN-TMA is a rare manifestation of a rare disease. Cav-1 is strongly associated with APSN-TMA and may serve as a novel marker for its diagnosis and stratification. Given the poor renal prognosis of APSN-TMA, identifying affected patients is crucial for optimizing management strategies.

CONCLUSIONS: A model-derived GFR estimation formula based on iohexol population pharmacokinetic modeling might allow for an accurate bedside assessment of kidney function in critically ill children, outperforming the Schwartz and Smeets/Pierce formulas, particularly in infants. External validation in larger pediatric intensive care unit populations, across the full age and GFR range, is warranted to confirm the generalizability of this equation and its potential for broader clinical application.

CONCLUSIONS: Patients with KIN-FAN1 develop kidney failure at a median age of 45 years. Survival is compromised with many dying of pulmonary disease.

CONCLUSIONS: This pilot study identified no association between APOL1 risk genotypes and kidney outcomes in patients with CAKUT across genetic models. With APOL1-targeted therapies emerging, large-scale prospective studies are needed to identify individuals with CAKUT who may benefit from these treatment strategies.

Podocytopathies are glomerular diseases caused by initial podocyte injury or dysfunction that lead to proteinuria and often nephrotic syndrome. The term encompasses characteristic histological patterns, most commonly focal segmental glomerulosclerosis, minimal changes, membranous nephropathy, diffuse mesangial sclerosis and collapsing glomerulopathy. However, proteinuria of glomerular origin is frequently managed without biopsy; importantly, when the protein loss is mostly albumin, it is a...

CONCLUSION: There is significant global variability in the spectrum of diseases leading to pediatric KF, partially attributable to genetic, environmental, and macroeconomic factors.

CONCLUSIONS: Lumasiran treatment for up to 60 months in ILLUMINATE-A was associated with sustained reductions in UOx excretion and plasma oxalate concentration, encouraging clinical outcomes including stable eGFR in a population that would be expected to show eGFR decline, reduced kidney stone event rates, improved medullary nephrocalcinosis, and indications of improved health-related quality of life.Clinical Trial registry name and registration number: ClinicalTrials.gov NCT03681184 .

CONCLUSION: Due to its heterogeneity in clinical presentation, all paediatric patients presenting with unilateral or bilateral uveitis should be screened for TINU. Likewise, patients who present with tubulointerstitial nephritis should be screened for the development of uveitis within the first several months. Ophthalmological outcome is favourable after long-term treatment with immunosuppressive medications. Finally, identifying tubulointerstitial nephritis early is important, as nearly...

Antiphospholipid syndrome (APS) is a rare autoimmune disorder characterized by the persistent positivity of antiphospholipid antibodies (aPLs) along with thrombotic manifestations, obstetrical complications, or nonthrombotic manifestations. The kidney is a major target organ in APS and is associated with poor prognosis. In light of the 2023 American College of Rheumatology (ACR) and the European Alliance of Associations for Rheumatology (EULAR) classification criteria for antiphospholipid...

CONCLUSIONS: These guidelines represent a fundamental step towards improving the health management of patients with rheumatological diseases in Italy by providing specific and evidence-based guidelines for the management of RA-ILD. Their use is intended to promote health and reduce the burden of morbidity and mortality in this vulnerable population.

CONCLUSIONS: Muscle-specific complications are often overlooked in systemic cystinosis treatment. We show that defective CTNS function impairs effective cystine mobilization from lysosomes, thereby affecting the protein levels of myogenic regulators. A deeper understanding of the molecular mechanisms underlying cystinosis myopathy holds promise for the development of targeted, personalized therapies to improve the quality of life for patients living with cystinosis.

Over the last decades, long-term survival after pediatric liver transplantation has improved substantially, highlighting the importance of long-term graft and recipient outcomes. About one in five pediatric liver transplant recipients will develop post-transplant metabolic syndrome (PTMS), a combination of cardiovascular risk factors increasing morbidity and mortality. In contrast to the classical metabolic syndrome (MetS), it is not always characterized by (abdominal) obesity. There are several...

CONCLUSIONS: This study highlights critical gaps in sustainable dialysis practices across European nephrology centers. Despite interest, implementation remains limited. The strong association between Green Teams and sustainability scores highlights the need for formalized institutional efforts. Given the significant ecological footprint of dialysis, urgent action is required to integrate sustainable strategies into routine nephrology care.

CONCLUSION: Screening for aPL and aPS/PT is vital to identify an ITP subset with milder thrombocytopenia and increased thrombotic risk, and may guide therapeutic decisions such as between thrombopoietin receptor agonists and SYK inhibitor.

Congenital lower urinary tract obstruction (CLUTO) is a spectrum of fetal malformations caused by anatomical abnormalities of the urethra, characterized by high rates of perinatal complications and mortality. The 2024 joint guideline from the European Association of Urology (EAU) and the European Society for Paediatric Urology (ESPU) introduced systematic revisions to the comprehensive management of CLUTO. Key updates encompass advancements in prenatal and postnatal screening and precise...

Cystinosis is a rare monogenic autosomal recessive disorder caused by pathogenic variants in the CTNS gene, encoding cystinosin. Loss-of-function of cystinosin leads to intralysosomal cystine accumulation, resulting in cellular dysfunction and multisystem involvement. In addition to symptomatic treatment, early initiation of cysteamine therapy and its strict adherence are essential to delay kidney failure and minimize extrarenal complications. We report the case of a 28-year-old woman diagnosed...

Efficient utilization of healthcare resources, including laboratory testing, is crucial for environmental sustainability and cost-effectiveness. The diagnosis of APS requires the presence of at least one clinical event (either an objectively confirmed thrombotic event and/or pregnancy complication) and detection of one or more aPL (lupus anticoagulant [LA], IgG/IgM anticardiolipin [aCL], and/or IgG/IgM anti-β2 glycoprotein-1 [aβ2GPI]). However, inappropriate requests for aPL tests contribute to...

CONCLUSION: Transient isolated RTA is observed in infants and young children with mild metabolic acidosis, isolated bicarbonaturia, and moderate failure to thrive and/or growth faltering. It resolves spontaneously within a few years, usually requiring only low-dose alkalizing therapy.

Hemolytic uremic syndrome caused by an invasive Streptococcus pneumoniae infection (SP-HUS) is a rare and severe disease that primarily affects children under two years of age. The pathophysiology of SP-HUS remains poorly understood, and treatment is largely supportive. Complement factor H (FH) is a key regulator of the alternative pathway of the complement system. It has been hypothesized that loss of sialic acids from FH's N-glycans may impair its regulatory functions, thereby potentially...

No abstract

CONCLUSION: In this study, we confirm that IFX and ADA are both effective in TAK, without significant differences in the risk of relapse and revascularizations.

[This corrects the article DOI: 10.1016/j.ekir.2025.01.014.].

CONCLUSION: Nedosiran was well-tolerated, reduced average Uox levels, reduced kidney stone occurrence, and maintained stable renal function for over 3 years.

CONCLUSIONS: Unsupervised clustering identified distinct clinical phenotypes in PLA2R-positive MN, each associated with different renal prognoses. Phenotype-based risk stratification could enhance treatment precision, improve patient outcomes, and potentially reduce treatment-related adverse effects.