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.

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CONCLUSIONS: Reduced respiratory infection exposure during the pandemic may be associated with lower new-onset NS incidence. Preventive measures against respiratory infections may help reduce NS occurrence.

Chronic kidney disease-mineral and bone disorder (CKD-MBD) is a well-recognized complication of end-stage kidney disease (ESKD), encompassing abnormalities in calcium, phosphorus, parathyroid hormone (PTH), vitamin D metabolism, and bone turnover. In advanced cases, secondary or tertiary hyperparathyroidism may lead to severe skeletal disease, including osteitis fibrosa cystica and brown tumors, which can mimic hematologic malignancies. We present the case of a 47-year-old man with...

CONCLUSIONS: This study underscores the need for early, integrated psychological assessment within the dialysis care pathway. A trauma-informed, multidisciplinary model may improve access to support and sustain adherence over time and should be prospectively investigated.

CONCLUSIONS: Circulating NSE in childhood reflects developmental stage rather than CKD status. Group comparisons in pediatric biomarker studies require age adjustment. Transplantation alters the NSE-age relationship beyond what kidney function explains. BDNF tracks kidney function in pediatric CKD. Age-stratified reference intervals are required before either marker can guide clinical decisions.

Oligomeganephronia (OMN) is a rare congenital renal hypoplasia characterized by markedly reduced nephron number with compensatory glomerular hypertrophy. Although typically diagnosed in childhood, adult-onset OMN is uncommon and often under-recognized. A 29-year-old man born at 28 weeks of gestation as one of triplets, with a birth weight of 740 g, was referred for evaluation of persistent proteinuria. Proteinuria had been intermittently detected for 10 years but remained uninvestigated. Three...

CONCLUSION: The findings from this research will provide guidance for a deeper understanding of the needs of children undergoing PD today and for initiatives planned in this context.

CONCLUSION: Long-term complement inhibitor therapy with the eculizumab biosimilar in patients with aHUS has demonstrated a stable effect, a favourable safety profile, and low immunogenicity.

CONCLUSION: One-third of families of inpatient pediatric oncology decedents with cancer agreed to autopsy. Demographic and diagnostic factors were not universally strong predictors, underscoring the personal nature of autopsy decisions. Further research should include multisite prospective designs and direct engagement with bereaved families.

CONCLUSION: This study represents the largest cohort of pediatric LN in AD population. Younger patients exhibited more frequent kidney flares, particularly within the first two years of diagnosis. Overall outcomes in pediatric LN showed a higher rate of dialysis and kidney failure than in Caucasian series.

CONCLUSIONS: This case suggests a possible link between ACTL6B-related neurodevelopmental disorders and gastrointestinal dysmotility; if confirmed, it could expand the known clinical spectrum of the disease. Pyridostigmine could be considered as adjunctive therapy in PIPO, especially when a neuropathic etiology is suspected.

CONCLUSIONS: Early markers of kidney damage remain very common in children with homozygous sickle cell disease in the DRC. This persistence highlights the lack of effective kidney prevention strategies and the urgent need for systematic screening using simple and accessible tools in resource-limited settings.

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IgA nephropathy (IgAN) is the most frequently reported glomerular disease associated with inflammatory bowel disease (IBD), particularly Crohn's disease (CD), although pediatric cases remain rare. We report IgAN in a 16-year-old male with CD following intestinal surgery and during long-term infliximab therapy, with renal impairment occurring independently of bowel disease activity. The patient presented with recurrent macroscopic hematuria, proteinuria, and acute kidney injury despite sustained...

Steroid-resistant nephrotic syndrome (SRNS) in childhood frequently reflects monogenic podocytopathies in which immunosuppression is ineffective. Biallelic variants in MYO1E, encoding the class I myosin Myo1E, cause a distinctive form of focal segmental glomerulosclerosis (FSGS) often accompanied by "Alport-like" multilamination of the glomerular basement membrane (GBM). Early recognition has therapeutic and prognostic implications. A previously healthy 4-year-old boy presented with generalized...

Hemolytic uremic syndrome (HUS) is a thrombotic microangiopathy characterized by the classical triad of acute hemolytic anemia, thrombocytopenia, and kidney impairment. We report a 10-year-old boy with acute pancreatitis presenting simultaneously with atypical HUS (aHUS) with two such episodes occurring 1 year apart. The child presented with abdominal pain, vomiting, oliguria, epigastric tenderness, and had a right undescended testis. During the initial episode, anti-factor H antibodies were...

CONCLUSION: Childhood HUS in this cohort is dominated by aHUS and secondary types. Early etiological differentiation, comprehensive laboratory assessment and targeted therapy improve outcomes, with findings aligning with global data but showing a more pronounced female bias due to high SLE-related cases.

PURPOSE OF THE PROGRAM: Children with chronic kidney disease (CKD) experience significant physical and psychological symptoms, necessitating patient-reported outcome (PRO) measurement tools to quantify symptoms, and to improve communication between children with CKD and their health care providers. This study aimed to implement the novel PRO-Kid tool into pediatric CKD and dialysis programs in Canada.

Children of transplanted mothers are at increased risk of adverse birth outcomes, but childhood health outcomes are undefined. Using linked data from the Australia and New Zealand Dialysis and Transplant Registry, perinatal and hospital datasets, admissions were compared between children of transplanted mothers and mothers not exposed to kidney replacement therapy. From 2 067 661 babies, 137 children of transplanted mothers (137 birth admissions) were identified; 93 had 444 subsequent...

CONCLUSION: We report a rare case of focal myocardial calcification with pathological Q waves in a maintenance dialysis patient. Chronic kidney disease (CKD)-related disturbances of calcium-phosphate metabolism can cause metastatic myocardial calcification. Severe focal calcification may produce mechanical compression and cell necrosis, disrupt electrical coupling, create electrically silent zones, and result in pathological Q waves. In CKD patients with abnormal ECG findings, myocardial...

Proteinuria is a common laboratory finding in adolescents. It is often benign and due to transient causes or orthostatic proteinuria. However, it can also be an early sign of underlying conditions that may lead to long-term kidney damage. Early recognition and appropriate diagnostic evaluation are crucial to preventing or slowing disease progression. In this age group, proteinuria may result from newly diagnosed diseases, pre-existing conditions that become clinically evident during adolescence,...

Background and objective Kidney transplantation is the preferred treatment for children with end-stage kidney disease (ESKD), offering superior survival, quality of life, and growth outcomes compared with dialysis. Achieving successful outcomes requires thorough preparation and strict adherence to standardized protocols. This study aimed to report the quality measures and standardized preparation protocol for pediatric kidney transplantation at Prince Sultan Military Medical City (PSMMC),...

CONCLUSION: This study suggests that in young patients with SCD without known nephropathy, the CKiDU25 equation using serum cystatin C, provides GFR estimates close to the gold standard isotopic measurement. Early tubular dysfunction is prevalent and may justify therapeutic interventions. These findings warrant confirmation in larger cohorts.

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.

CONCLUSIONS: Identifying VUS is a recurring challenge in routine clinical genetics, particularly for patients with rare diseases or atypical phenotypes in underrepresented populations. This case underscores the benefit of timely genetic diagnosis taking into account the patient's request. VUS reassessment becomes more relevant when considering a kidney transplant not only as an appropriate procedure, but as the therapy of choice, especially considering the patient's history of complications with...

CONCLUSIONS AND RELEVANCE: In this case-control study, age-related neurodevelopmental differences were observed in pediatric patients with CKD compared with healthy peers. Reductions in cerebellar volume were associated with cognitive deficits and lower kidney function. These findings underscore the importance of monitoring neurodevelopmental trajectories in children with CKD, as early interventions may be necessary to mitigate cognitive impairments associated with CKD.

Fabry disease (FD) belongs to the group of lysosomal storage diseases (LSD), characterized by insufficient enzyme activity responsible for the intra-lysosomal breakdown of various substrates. The result is an uncontrolled accumulation of by-products of cellular metabolism. Lysosomal storage diseases are inherited and transmitted mainly in an autosomal recessive fashion. Without a positive family history, an early diagnosis can often be missed. In addition, the age of clinical manifestation can...

Introduction. Health-related quality of life (HRQL) and its social consequences have not been evaluated in adults who started renal replacement therapy (RRT) in childhood/adolescence and are currently on hemodialysis. Population and methods. We compared 26 patients who started their RRT at 50 indicate good HRQL. Results. The study was conducted in 2018....

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...

Immunotactoid glomerulopathy (ITG) is diagnosed by identifying organized microtubules on electron microscopy and it can therefore be missed when they are not demonstrated. A 48-year-old woman with hematuria, nephrotic-range proteinuria, and a faint IgG-κ monoclonal protein underwent an initial kidney biopsy, which showed endocapillary proliferative glomerulonephritis with membranoproliferative features and scant subendothelial deposits, but no diagnostic microtubules. With worsening renal...

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...

CONCLUSIONS: These findings suggest that the QD-LFIA enabled rapid detection of anti-nephrin autoantibodies in children with idiopathic nephrotic syndrome. The QD-LFIA showed good agreement with IP-WB and identified additional anti-nephrin-positive samples undetected by IP-WB.

CONCLUSIONS: MMF and TAC showed comparable efficacy in maintaining remission in children with FRNS/SDNS. However, TAC was associated with less favourable kidney, cardiovascular, and growth profiles. MMF may represent a safer alternative for long-term therapy, although larger multicentre trials are needed.

We report the case of a 64-year-old man referred for evaluation of progressive renal dysfunction associated with hypertriglyceridemia and non-nephrotic proteinuria. There was no evidence of plasma cell dyscrasia, chronic inflammatory disease, or other secondary causes of amyloidosis. Renal biopsy revealed amyloid deposits with predominant glomerular involvement. Congo red staining confirmed the presence of amyloid, showing characteristic apple-green birefringence under polarized light....

Dysregulated lipid metabolism is implicated in renal injury associated with diabetic nephropathy, acute kidney injury, chronic kidney disease, nephrotic syndrome, and renal cell carcinoma. However, its causal role and mechanisms remain ambiguous. Mitochondria-associated ER membranes (MAMs) are contact sites between the endoplasmic reticulum and mitochondria that facilitate the integration of lipid trafficking, mitochondrial metabolism, calcium signaling, and redox homeostasis within cells....

Mercury-associated minimal change disease (M-MCD) is a rare form of secondary minimal change disease (MCD) caused by chronic mercury exposure. Given its rarity and nonspecific clinical presentation, M-MCD is frequently underrecognized in clinical practice. We report the case of a 32-year-old woman who presented with nephrotic syndrome following 4 months of applying a skin-whitening cream. Markedly elevated urinary mercury concentrations were detected, and renal biopsy confirmed MCD with...

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: Our study reinforces that the etiologic spectrum of adult-onset nephrotic range proteinuria in India did not entirely mirror Western trends. Podocytopathies represented the largest category, emphasising the ongoing epidemiologic transition in glomerular diseases, advocating a need for continued regional surveillance and multicenter data integration.

Spontaneous bacterial peritonitis (SBP) is a life-threatening complication of idiopathic nephrotic syndrome (INS) in children. Evidence on the optimal duration of antibiotics in this population is limited. We investigated whether 5-day antibiotic therapy is non-inferior to 7-day therapy for SBP in children with INS. In this single-center, open-label, randomized controlled non-inferiority trial, 50 children aged 1-14 years with INS and SBP were allocated 1:1 to intravenous ceftriaxone for 5 days...

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...

Immune checkpoint inhibitors have improved cancer prognosis, but are associated with immune-related adverse events, including rare renal complications. Here, we report the case of a 68-year-old Japanese man with unresectable advanced non-small cell lung cancer who developed nephrotic syndrome and organizing pneumonia associated with durvalumab therapy. The patient developed significant proteinuria during glucocorticoid treatment for organizing pneumonia. Renal biopsy led to a diagnosis of...

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CONCLUSION: Genetic polymorphisms in TNF-α G308A and IL-10 A592C may contribute to susceptibility to SRNS, highlighting the role of inflammatory pathways in disease pathogenesis. These findings may support the identification of potential biomarkers for disease susceptibility and immune dysregulation in pediatric NS.

CONCLUSION: NDGD is common among T2DM patients with nephrotic-range proteinuria. The proposed clinical prediction score showed good discrimination in this cohort but requires external validation before it can be used to support biopsy decision-making in clinical practice.

CONCLUSION: NPS is a promising biomarker for assessing inflammation, nutritional status, and disease severity in AINS. Prospective, multi-center studies are needed to validate its clinical utility and potential role in guiding individualized NS treatment.

Fibronectin glomerulopathy (FNG) is a rare renal disorder characterized by excessive glomerular fibronectin deposition, often associated with variants in the fibronectin 1 (FN1) gene. Clinically, FNG presents with proteinuria, hematuria, and hypertension, and may progress to end-stage kidney disease. However, its long-term clinical course and optimal management remain incompletely defined. We report a sporadic case of FNG in a 26-year-old woman carrying an FN1 variant, c.2918A > G (NM_212482.4)....

Rituximab (RTX) is increasingly used in steroid-dependent minimal change disease, a leading cause of idiopathic nephrotic syndrome (INS), yet predictors of response remain unclear. Although RTX primarily targets B cells, T cells are also implicated in INS pathogenesis. We investigated RTX-induced T cell dynamics by single-cell RNA sequencing/T cell receptor profiling of peripheral T cells from three responders and three non-responders before and after RTX treatment. Responders exhibited...

CONCLUSIONS: IL-1β positivity is associated with relapse within 6 months of onset in children with newly diagnosed PNS. Further studies are required to validate this association and elucidate the underlying mechanisms.

CONCLUSIONS: These findings suggest that baseline risk stratification identified subgroups in which triple therapy was associated with higher CR rates. Prospective validation in independent cohorts is required before this approach can inform treatment selection.

Thromboembolism is a life-threatening complication of nephrotic syndrome, which is treated with oral anticoagulants (warfarin and direct oral anticoagulants [DOACs]) that possess a variety of pharmacokinetic characteristics. This narrative review focused on drug-drug interactions between oral anticoagulants and calcineurin inhibitors (CNIs) (e.g., tacrolimus, cyclosporine, and voclosporin) for the management of thromboembolism in nephrotic syndrome. While warfarin has less potential for...

CONCLUSION: Characteristics of the IGH repertoire in FRNS patients, especially the Shannon index, may serve as potential biomarkers for early risk stratification and personalized treatment of PNS in children.

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Background: Pediatric idiopathic nephrotic syndrome (INS) is classified primarily by corticosteroid response, delaying identification of steroid-resistant disease and exposing children to unnecessary treatment toxicity. Novel biomarkers could enable earlier biological stratification and treatment guidance. Objectives: The study aimed to map available evidence on candidate biomarkers in pediatric INS published since 2020, with emphasis on anti-nephrin autoantibodies and their potential for...

Collagenofibrotic glomerulopathy (CG) is an exceptionally rare idiopathic glomerular disease defined by pathological intraglomerular accumulation of type III collagen fibrils within the mesangial matrix and subendothelial space. We report the case of a 35-year-old woman presenting with generalized anasarca, frothy urine, and exertional dyspnea. Laboratory investigations revealed nephrotic syndrome with a 24-hour urinary protein of 3,658 mg/day, serum albumin of 2 g/dL, and progressive renal...

Lupus nephritis (LN) with a membranoproliferative pattern is an uncommon but recognized renal manifestation of systemic lupus erythematosus (SLE). While autoimmune myelofibrosis (AMF) has been described in association with SLE, the coexistence of primary myelofibrosis (PMF) with this pattern of LN has not been previously documented. We report a 50-year-old man with JAK2-positive PMF, undifferentiated connective tissue disease (UCTD), and Stage 3b chronic kidney disease who developed nephrotic...

Proteinuria promotes renal Na^(+) retention through aldosterone-independent activation of the epithelial Na^(+) channel (ENaC). Although this mechanism is well documented in rodent models, its relevance and mechanistic basis in human disease remain poorly defined. Using a cross-sectional design, we isolated urinary extracellular vesicles (uEVs) from healthy subjects (control, n = 20), patients with proteinuria (2.5 ± 1.7 g albumin/g creatinine, n = 20), and patients with nephrotic syndrome (5.5...

CONCLUSION: AL amyloidosis can occur in patients with a remote history of RCC. Clinicians should maintain high suspicion in patients with nephrotic-range proteinuria and cardiac involvement. Early recognition, staging, and therapy may improve outcomes, although irreversible organ damage may limit recovery.

CONCLUSION: Pediatric FSGS and MCD exhibited distinct patterns of podocyte ultrastructural alterations accompanied by differences in glomerular CD36/NLRP3 expression. These observations suggest heterogeneous alterations in cellular homeostasis between pediatric podocytopathies and warrant further investigation into mechanisms associated with podocyte structural integrity and injury.

Groper appliance is a fixed esthetic space maintainer used to replace prematurely lost primary anterior teeth while supporting esthetics, oral function, and space maintenance. This case report describes the oral rehabilitation of a four-year-old girl with nephrotic syndrome in remission who presented with extensive dental caries affecting both the anterior and posterior primary dentition. The patient's medical condition was stable, and dental treatment was carried out in consultation with the...

A double-blind randomized placebo-controlled trial aimed to evaluate the effect of oral zinc supplementation on reducing relapse frequency in children aged 1-12 years with steroid-sensitive nephrotic syndrome (SSNS). 84 participants were randomized to receive oral zinc (7 mg/day for 1-3 years and 10 mg/day for 4-12 years), or placebo for six months along with standard therapy. Although median (q1, q3) number of relapses during the 6-month study period was similar in zinc and placebo groups [1...

CONCLUSIONS: Clinical phenotype strongly predicts anti-PLA2R diagnostic yield in nephrotic-range proteinuria. These findings support KDIGO guidelines emphasizing nephrotic syndrome presence for non-invasive anti-PLA2R-positive membranous nephropathy diagnosis and suggest prioritizing anti-PLA2R testing in nephrotic syndrome patients for optimal resource utilization in limited settings.

Onconephrology is an emerging subspecialty that encompasses comprehensive kidney management in patients with cancer. Trastuzumab emtansine (T-DM1) is an antibody-drug conjugate composed of trastuzumab linked to the microtubule inhibitor. T-DM1 is widely used in the treatment of human epidermal growth factor receptor 2-positive breast cancer, and glomerular disease arising during T-DM1 therapy remains rarely reported. The present report describes the case of a 50-year-old Japanese woman who...

Congenital complete atrioventricular block (CCAVB) is a well-recognized manifestation of neonatal lupus erythematosus (NLE), caused by transplacental transfer of maternal anti-Ro/Sjögren's Syndrome Type A (SSA) and anti-La/Sjögren's Syndrome Type B (SSB) antibodies. Although non-cardiac manifestations of NLE typically resolve within the first year of life, the long-term autoimmune risk in affected offspring remains unclear. We report a 24-year-old woman with CCAVB secondary to maternal Sjögren's...

2例原发肾病综合征男童，因激素耐药、联合钙调蛋白磷酸酶抑制剂和CD20单抗治疗6个月以上，仍未能使蛋白尿转阴。在清除B细胞后加用达雷妥尤单抗治疗。例1肾脏病理为局灶节段性肾小球硬化，达雷妥尤治疗2周后尿蛋白部分缓解，治疗4周后停糖皮质激素、12周停环孢素，末次随访尿蛋白定量0.18 g/d。例2肾脏病理为轻系膜增生肾小球病伴足细胞病，达雷妥尤治疗2周后尿蛋白转阴，治疗5周后停糖皮质激素、8周后停他克莫司。.

A 12-year-old girl presented with steroid-resistant nephrotic syndrome and was found on kidney biopsy to have membranous nephropathy with a full-house immunofluorescence pattern. At presentation, she had marked hypercholesterolemia, with an LDL-C level of 589 mg/dL, and a family history suggestive of familial hypercholesterolemia. Multiple immunosuppressive therapies resulted in only transient or insufficient improvement in proteinuria, while conventional lipid-lowering agents failed to control...

Inferior vena cava (IVC) agenesis is a rare congenital anomaly (prevalence 0.0005%-1%) often asymptomatic but can be complicated by deep vein thrombosis, particularly in the presence of acquired thrombophilia. There are 2 major presentations reported in literature, infrahepatic IVC agenesis associated mostly with lower-limb thrombosis and intrahepatic IVC agenesis associated frequently with splanchnic thrombosis and pulmonary embolism. We report the case of a 38-year-old man presenting with...

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CONCLUSIONS: Higher anti-PLA2R antibody levels at the time of hypoalbuminemia are associated with a higher risk of thrombotic complications in individuals with anti-PLA2R-positive MN.

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CONCLUSIONS: This case illustrates how prolonged combined corticosteroid and calcineurin inhibitor therapy in FSGS can precipitate a cascade of severe opportunistic infections, emphasizing the need for early pathogen-specific prophylaxis, vaccination, systematic infection surveillance, and dynamic reassessment of cumulative immunosuppression.

CONCLUSION: This case highlights several important features of anti-CNTN1 nodopathy, including neuro-renal coupling, dysphagia as a potentially under-recognized manifestation of bulbar involvement, and an unusually favorable outcome following early B-cell-depleting therapy. Diabetes may complicate recognition of the disorder by mimicking both neuropathic and renal manifestations. Together with the reported association between anti-CNTN1 nodopathy and malignancy, the clinical heterogeneity of...

Focal segmental glomerulosclerosis (FSGS) is a major cause of nephrotic syndrome and progression to end-stage renal disease, yet its molecular pathogenesis remains still incompletely defined. While transcriptional alterations in podocytes have been extensively characterized, the contribution of post-transcriptional regulatory mechanisms is poorly understood. Here, we combined a zebrafish podocyte-specific injury model with glomerulus-resolved transcriptomic profiling to dissect RNA regulatory...

CONCLUSION: Failure to achieve the EULAR 3- and 6-month proteinuria targets serves as a warning sign for suboptimal response at 12 months. In patients with baseline nephrotic-range proteinuria attainment of early response has limited predictive value for 12-month CRR.

CONCLUSION: Early exercise therapy in acute NS improved exercise tolerance clinically, although the primary outcome between-group difference was not statistically significant. No evidence indicated increased non-remission risk.

CONCLUSION: Serum proteomics analysis identified a group of patients with NS who were potentially at higher risk of developing VTE. Extracellular matrix and endothelial glycocalyx damage might play an important role in VTE development among patients with NS.

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.

Podocytes are terminally differentiated visceral epithelial cells that form the outermost layer of the glomerular filtration barrier. Through their foot processes and slit diaphragm structures, podocytes confer selective permeability to the glomerular filtration barrier and play a critical role in maintaining kidney function. Podocyte damage is characterized by foot process effacement, loss of slit diaphragm proteins, reorganization of the actin cytoskeleton, and apoptosis, and plays a central...

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Abernethy malformation is a rare congenital vascular anomaly defined by the absence or severe hypoplasia of the portal vein, resulting in portosystemic shunting. The metabolic and immunologic consequences such as hepatic encephalopathy and pulmonary complications are well recognized. However, renal involvement of Abernethy malformation has been reported rarely . We report a 13-year-old boy who presented with severe anemia, pneumonia and nephrotic-range proteinuria (14.18 g/24 h). Imaging...

CONCLUSIONS: ITOT is a geographically diverse, global phenomenon. The substantive proportion of pediatric cases, deceased donor transplants, and private-sector procedures underscores the need for strengthened national and international data collection, governance frameworks, and equitable access policies to address the ethical and clinical challenges of ITOT.

CONCLUSIONS FOR PRACTICE: Parents of CKD patients perceive their children as more vulnerable than parents of healthy children, yet they do not exhibit higher levels of overprotectiveness. Higher PCV was associated with increased parenting stress and anxiety, especially in parents of children with medical comorbidities. These findings underscore the importance of implementing psychosocial interventions targeting these parental adjustment outcomes in pediatric nephrology departments.

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.

Children with failed kidney transplant often become highly sensitized to human leukocyte antigens (HLA), limiting access to future transplantation. We report a successful accelerated peri-transplant desensitization protocol enabling HLA-incompatible deceased donor kidney transplantation in a highly sensitized pediatric recipient. A 14-year-old boy remained on hemodialysis for 11 years after failure of his first kidney transplant and had a calculated panel reactive antibody of 99.70%. Following...

CONCLUSIONS: This study provides the first age-dependent reference values for PENK. These reference values are a prerequisite for future studies evaluating the precision and clinical utility of PENK as a diagnostic biomarker across all age groups, particularly in pediatric populations.

CONCLUSIONS: This technique appears as a safe and physiological alternative to previously described venous anastomoses to the portal system or pelvic varices, preventing chronic venous hypertension of the graft.

CONCLUSIONS: Females in Australia experience substantially reduced access to the kidney transplant waitlist, with the greatest inequities affecting those facing overlapping social and/or clinical disadvantage. The absence of sex-disparity after waitlisting indicates that inequities arise earlier in the referral and evaluation pathway. Interventions to improve equity must target these upstream stages and address intersecting drivers of disadvantage.

Aging kidneys exhibit accumulation of senescent cells together with sterile low-grade inflammation. However, the spatial organization of senescence-associated immune cell accumulation in the aging kidney remains poorly defined. We systematically analyzed kidneys from young, middle-aged, and aged mice, focusing on the spatial relationship between senescent tubular cells and distinct immune cell populations. Senescent tubular cells showed significant local enrichment of immune cells, with...

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....

Kidney transplantation (KT) for adenine phosphoribosyltransferase (APRT) deficiency is performed using the xanthine dehydrogenase (XDH) inhibitor allopurinol to prevent the recurrence of dihydroxyadenine (DHA) nephropathy. However, there are few reports on the use of febuxostat after pediatric KT for APRT deficiency. Herein, we report the case of a 12-year-old boy with congenital kidney and urinary tract abnormalities who underwent deceased-donor KT for end-stage kidney disease caused by APRT...

Hepatitis B virus (HBV) infection remains a global health challenge, with more than 250 million people chronically infected worldwide and >2000 daily deaths from HBV-related disease. Early-life acquisition is the primary driver of chronic infection; up to 90% of infants infected perinatally progress to chronic HBV infection compared with markedly lower rates in older children and adults. Universal infant immunization, including the birth-dose, has been central to global elimination, resulting in...

CONCLUSIONS/INTERPRETATION: SPKTx demonstrates a superior metabolic profile post transplant to that in KTx in recipients with type 1 diabetes. However, this does not translate into differences in the risk of CAD or PVD post transplant, with PVD accounting for the greatest burden of macrovascular disease.

CONCLUSIONS: While short-term success in pediatric kidney transplantation is highly encouraging, long-term graft longevity requires targeted clinical interventions. Optimizing outcomes necessitates precise, lifelong management strategies specifically focused on mitigating chronic rejection, preventing post-operative infections, and implementing multidisciplinary support systems to enhance patient adherence to immunosuppressive therapy.

CONCLUSION: MS was found in about a third of the cohort. Graft function and LVH were similar between the groups. Post-transplant weight gain was a key determinant of MS.

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.

CONCLUSION: Half of U.S. identical twin kidney transplant recipients receive CNIs at discharge, with no utilization decline over 25 years. This practice is not supported by measurable reductions in rejection or improved graft survival and warrants clinical re-evaluation.

Human leukocyte antigen (HLA) donor-specific antibodies (DSA) are among the most important determinants of late allograft loss after kidney transplantation. However, no uniform monitoring strategy has been validated in pediatric recipients. This educational review recommends that post-transplant HLA antibody monitoring in children should be tailored to the individual patient's immunological risk profile rather than applied as a fixed schedule. Pediatric recipients face a heterogeneous risk...

CONCLUSION: Early CMV-specific CD4^(+)/CD8^(+) imbalances measured by AIM are associated with CS-CMVi and reflect distinct trajectories of immune reconstitution after KT. These findings support prospective evaluation of CMV-AIM assays as precision immune-monitoring tools in larger studies.

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.

CONCLUSIONS: Influenza vaccination decreased the risk of influenza infection among pediatric SOT recipients for the 2018-2024 influenza seasons.

CONCLUSION: Intraoperative hemodynamic parameters were not independently associated with DGF or early graft function. At day 7, early graft function was primarily associated with cold ischemia time, whereas at day 30 it was mainly associated with preemptive transplantation status and DGF.

Ifosfamide is a chemotherapeutic agent used to treat aggressive solid tumors, but nephrotoxicity is a serious adverse effect and a risk factor for chronic kidney disease. Isophosphoramide mustard is the therapeutically active metabolite, whereas chloroacetaldehyde (CAA) is considered the nephrotoxic metabolite. The kidney injury predominantly affects the proximal tubule and has been linked to mitochondrial defects, although the cellular mechanisms remain incompletely understood. Here, we review...

CONCLUSIONS: The HD carbon footprint varies nearly threefold across European settings. Centre-specific emission hotspots identified through absolute life cycle stage comparisons define the most actionable intervention priorities. Where public transport is structurally feasible, modal shift is the single largest modifiable lever.

CONCLUSIONS: CNS infections in SOT recipients are rare and presentation can be non-specific, though associated with a high mortality. These findings highlight the importance of maintaining clinical awareness of CNS infection in SOT recipients.

CONCLUSIONS: In stable pediatric KT recipients, dd-cfDNA levels were well below the adult-derived 1% cutoff, reinforcing the generalizability of this cutoff to the pediatric population. Recipients 30 kg/m² or in the setting of a donor-recipient BSA mismatch > 1.5 were associated with higher dd-cfDNA levels.

CONCLUSIONS: ICIs alone or in combination with oncolytic immunotherapy may serve as novel downstaging strategies in advanced, ruptured HCC. Successful LT with long-term disease-free survival challenges traditional concerns about peritoneal seeding. Larger studies are required to define optimal patient selection, timing, and safety of pre-transplant ICIs. A 54-year-old man with advanced, ruptured liver cancer had an unexpectedly stable course over four years while receiving immunotherapy and an...

CONCLUSIONS: In pediatric kidney transplantation, our extravesical ureteroneocystostomy technique without routine ureteral stent placement was associated with a low incidence of post-transplant urological complications.

Microglia replacement is a novel and clinically validated therapeutic framework for brain diseases. Microglia replacement by bone marrow transplantation (Mr BMT) is among the most widely used strategies, achieving efficient replacement and robust therapeutic efficacy. However, Mr BMT affects not only the brain but also the peripheral system. In this study, we comprehensively investigated its effects on peripheral organs, including the liver, kidney, spleen, and lung. We found that Mr BMT...

Pediatric solid organ transplant recipients are at high risk for complications from vaccine-preventable diseases, yet pre-transplant vaccination coverage is often inconsistent. We conducted a retrospective cohort study of 421 pediatric transplant recipients between 2018 and 2024 to evaluate vaccination status and serologic immunity for varicella and measles at the time of initial evaluation, listing, and transplantation. At the time of transplant, 19.2% of patients for varicella and 21.6% for...

CONCLUSIONS: CKD affects a substantial and growing proportion of pediatric HSCT survivors in this cohort, particularly those transplanted at older ages. These findings are associative rather than causal, given the retrospective, single-center design and limited number of CKD events. They nonetheless support systematic long-term renal surveillance and nephrology referral as part of post-HSCT survivorship care, with prospective, adequately powered studies needed to confirm risk factors and clarify...

Mutations in the transcription factor gene Wilms Tumor 1 (WT1) are one of the leading causes of congenital glomerular disease, characterized by severe urinary protein loss and glomerular scarring. No disease-modifying therapies exist for WT1 glomerulopathies, and affected children rely on dialysis or kidney transplantation. We evaluated a previously uncharacterized treatment in a mouse model with an orthologous human mutation in Wt1 (Wt1^(+/R394W)) that replicates the pathology of WT1...

Background: Overweight, obesity, and metabolic dysfunction-associated fatty liver disease (MASLD) are increasingly prevalent in adolescents and are linked to alterations in the gut-liver axis. Gut microbiota may contribute to early metabolic disturbances preceding overt disease. Objective: To compare gut microbiota composition and fecal metabolite profiles, including short-chain fatty acids (SCFAs) and amino acids (AAs), between adolescents with overweight/obesity and normal-weight peers, and to...

No abstract

CONCLUSIONS: Online searches generated limited high-quality resources tailored to pediatric needs. Healthcare providers should guide families to vetted resources and consider co-creating materials to improve relevance and impact.

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CONCLUSIONS: Detection of anti-FB antibodies is strongly associated with infection-related glomerulonephritis in adult patients, highlighting an important mechanism of alternative pathway deregulation in such diseases.

CONCLUSIONS: This updated systematic review and component network meta-analysis will incorporate advanced novel analytical techniques to produce the first clinically meaningful hierarchy of antihypertensive interventions according to efficacy and safety in patients with CKD and diabetes mellitus, carrying implications for future clinical practice guidelines.

INTRODUCTION: WT1-associated kidney disease is an important cause of early-onset end-stage kidney disease (ESKD) in children and may be accompanied by Wilms tumor, gonadal tumors, and disorders of sex development (DSD), creating distinctive challenges for kidney transplantation and post-transplant management.

CONCLUSIONS: In a US VLBW population, the unmodified STARZ score demonstrates limited clinical utility for AKI risk stratification, thus limiting its routine clinical use and highlighting the need for population-specific validation and redevelopment of AKI risk models.

Emerging studies have identified autoantibodies targeting the podocyte protein nephrin in patients with post-transplant recurrent focal segmental glomerulosclerosis (FSGS). These antibodies bind nephrin, directly disrupting its downstream signaling pathways. This disruption profoundly impacts podocyte structure and function, thereby enriching our understanding of antibody-mediated podocytopathies and their classification. The presence of these autoantibodies correlates with disease activity and...

CONCLUSIONS: This pilot study suggests that factors such as HLA mismatches, donor eGFR, and donor age, consistently guided decisions, independently of participant's allocation organization. This underscores the potential value of developing evidence-informed donor-offer acceptance guidelines and investigating the impact of these factors on kidney transplantation outcome.

CONCLUSIONS: Embedding these strategies may strengthen the routine translation of research evidence into practice and policy, ultimately improving care and outcomes for individuals with kidney disease.

Abernethy malformation is a rare congenital vascular anomaly defined by the absence or severe hypoplasia of the portal vein, resulting in portosystemic shunting. The metabolic and immunologic consequences such as hepatic encephalopathy and pulmonary complications are well recognized. However, renal involvement of Abernethy malformation has been reported rarely . We report a 13-year-old boy who presented with severe anemia, pneumonia and nephrotic-range proteinuria (14.18 g/24 h). Imaging...

CONCLUSIONS: There are important opportunities to enhance transplant educational materials by tailoring content to children, increasing accessibility, and more consistently and comprehensively addressing concerns about life participation after transplant.

CONCLUSIONS: Among pediatric kidney transplant patients with diarrhea, the rate of intestinal pathogens was slow but reduced normal flora in stool cultures was common, indicating microbiota -related etiologies. The high rate of cytomegalovirus infection among patients suggested that cytomegalovirus infection should be considered as a potential etiological factor in pediatric transplant patients presenting with diarrhea. Noninfectious causes should also be considered in differential diagnosis of...

CONCLUSIONS: Pediatric kidney transplant recipients exhibit distinct inflammatory and biochemical profiles during upper respiratory tract infection compared with healthy peers but show comparable clinical outcomes. Early molecular diagnosis, vigilant monitoring, and preventive strategies such as vaccination remain essential to optimize infection management in this vulnerable population.

CONCLUSIONS: Integrated crossmatch assays enabled safe transplant in 84 % (categories 3b /4 ), reducing desensitization needs amid absent deceased -donor programs and rare paired exchange.

CONCLUSIONS: The severity of underlying liver disease is the main determinant of early postoperative acute kidney injury after liver transplant. Optimization of reversible etiologic factors and careful perioperative hemodynamic management may reduce the risk.

CONCLUSIONS: Pediatric renal transplant recipients with cystinosis demonstrated comparable graft survival and favorable posttransplant outcomes versus recipients without cystinosis, with potential advantages, including lower incidence of new -onset diabetes after transplant and better early renal function. These findings support renal transplant as a viable treatment option for pediatric patients with cystinosis and end -stage renal disease.

CONCLUSIONS AND RELEVANCE: We report a structured multidisciplinary consensus for defining the role of IS in AKI and acute kidney care. Future programs should address these consensus questions and apply these statements along with IS methodology in the translation of science into clinical practice and the implementation/de-implementation of EBPs in clinical care.

Mucopolysaccharidosis type II (MPS II) results from iduronate-2-sulfatase (IDS) enzyme deficiency due to IDS gene mutations. Most patients with neuronopathic MPS II experience progressive neurological decline; however, effectiveness of standard treatment, intravenous idursulfase, is limited by blood-brain barrier transfer. Intracerebroventricular (ICV) idursulfase beta, approved in Japan in 2021, directly delivers idursulfase beta into cerebral ventricles. This post-marketing surveillance...

A 12-year-old girl presented with steroid-resistant nephrotic syndrome and was found on kidney biopsy to have membranous nephropathy with a full-house immunofluorescence pattern. At presentation, she had marked hypercholesterolemia, with an LDL-C level of 589 mg/dL, and a family history suggestive of familial hypercholesterolemia. Multiple immunosuppressive therapies resulted in only transient or insufficient improvement in proteinuria, while conventional lipid-lowering agents failed to control...

CONCLUSIONS: Increasing ACV burden was associated with lower HRQOL across multiple physical health domains for patients with GD. Our study reinforces the health care burden experienced by patients with GD and identifies risk factors for deterioration in HRQOL.

Autoimmune nodopathies are a subgroup of peripheral neuropathies characterized by autoantibodies targeting nodal and paranodal proteins such as neurofascin-155 (NF155), contactin-1 (CNTN1), and Contactin-associated protein 1 (Caspr1). Unlike chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), these conditions involve direct disruption of the node of Ranvier rather than demyelination, leading to their distinction from CIDP in the 2021 EAN/PNS guidelines. Paranodal autoantibodies are...

CONCLUSION: Acetate ameliorates experimental MN through coordinated immunomodulatory effects and amelioration of podocyte foot process effacement. These findings support targeting acetate pathways as a mechanistically plausible adjunct strategy with low potential toxicity for MN.

CONCLUSION: We describe treatment allocation and short-term outcomes in pediatric MN using a modified risk stratification-based approach. Higher risk categories appeared to have less favorable responses, while anti-PLA2R positivity was associated with better outcomes.

CONCLUSIONS: Our NELL1 LIPS assay provides a noninvasive tool for diagnosing NELL1-associated MN, characterizing clinical subsets, and monitoring therapeutic response.

CONCLUSION: Our findings highlight the importance of the systematic assessment including spatial and temporal variation of a broad range of air pollution components to determine the impact of exposure on short- and long-term outcomes in patients with primary glomerular disease (word count: 368).

CONCLUSIONS: Several years of follow-up are necessary to accurately estimate long-term eGFR slopes in patients with glomerular disease, but moderately sized gaps between eGFR measurements are acceptable.

CONCLUSIONS: The coexistence of membranous and IgA nephropathy may have contributed to the rapid progression of the disease. Clinicians should consider IPEX syndrome in children with kidney disease accompanied by autoimmune endocrinopathies or allergic features, even if the classic gastrointestinal involvement is missing.

CONCLUSIONS: Kidney biopsy did not significantly alter immunosuppressive management in newly diagnosed patients with SRNS at our center. Larger multicenter studies are needed to confirm these findings and evaluate whether more selective biopsy criteria could spare patients from a potentially avoidable invasive procedure, improve clinical management, and reduce healthcare costs.

Although membranous nephritis represents the classic presentation of hepatitis B virus--associated glomerulonephritis (HBV-GN) in children, adult cases can exhibit quite different features. In 1992, a 41-year-old man with recurrent nephrotic syndrome since 20 years was admitted for renal evaluation and underwent kidney biopsy. Light microscopy showed periodic acid methenamine silver staining with spike formation consistent with membranous nephropathy. However, electron microscopy demonstrated...

B-cell depletion with the chimeric anti-CD20 monoclonal antibody rituximab has revolutionized the treatment of glomerular diseases. Obinutuzumab, a type II glycoengineered anti-CD20 humanized monoclonal antibody, is increasingly being employed as an alternative to rituximab in the management of difficult-to-treat cases, due to deeper and more persistent B-cell depletion. However, its safety profile, especially in pediatric and young adults with glomerular diseases, remains to be fully...

BACKGROUND: Anti-contactin-1 antibody-associated autoimmune nodopathy (CNTN1-AN) is a rare disorder predominantly affecting older individuals, characterized by sensorimotor peripheral neuropathy, with over 50% of cases presenting with proteinuria and membranous nephropathy (MN). Pediatric-onset CNTN1-AN is exceptionally rare, and its clinical profile remains poorly characterized. CASE PRESENTATION AND LITERATURE REVIEW: We report a pediatric case of CNTN1-AN with MN and conduct a literature...

CONCLUSIONS: MN is a disease of autoimmunity directed against podocyte antigens, but some patients may also produce autoantibodies that target antigens on glomerular endothelial cells. The level of these antibodies correlates with adverse clinical findings.

Membranous-like glomerulopathy with masked Immunoglobulin G (IgG) kappa deposits (MGMID) is a recently described rare entity. MGMID is characterized by a membranous pattern of kidney injury with monoclonal IgG kappa restriction and is recognized and "unmasked" by pronase digestion on formalin-fixed paraffin-embedded tissue using immunofluorescence staining. This technique is necessary to identify peculiar forms of glomerular immune complex deposition, which is essential for diagnosing MGMID....

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...

Membranous nephropathy (MN) is the cause of 3% of pediatric nephrotic syndrome, with increasing incidence in adolescents. It was historically divided into primary and secondary forms but is increasingly described by antigen. The direct clinical value of knowing the MN antigen often depends on the strength of association between antigen and various underlying conditions, prognostic potential, and the presence of commercially available serum antibody testing. In this case, we describe an...

CONCLUSION: This study developed a personalized risk prediction model for VTE in PMN patients using machine learning techniques. Additionally, a web-based tool for this predictive model was created. The model demonstrates strong predictive performance and can assist in clinical decision-making for the prevention and treatment of VTE in PMN patients.

CONCLUSION: Nephrotic syndrome was leading kidney biopsy indication. IgAN was the most common histological finding, followed by lupus nephritis. Primary GN was more prevalent than secondary GN. IgAN had a distinct clinical and laboratory profile. The findings emphasize establishing national kidney biopsy registry in Nepal to standardize data and track longitudinal outcomes.

CONCLUSION: A subgroup of pregnant patients can be managed without exposing the mother-child pair to adverse effects related to immunosuppression when preeclampsia is detected in the third trimester of gestation.

CONCLUSIONS: This case underscores the diverse clinical spectrum of primary Sjögren's syndrome and highlights the potential for rare glomerular involvement in children. It emphasizes the need for heightened awareness among pediatric healthcare providers regarding the systemic manifestations of primary Sjögren's syndrome to prevent delayed diagnosis.

MIRAGE syndrome is a rare multisystem disorder caused by gain-on-function SAMD9 variants. Kidney biopsies in some MIRAGE syndrome patients have shown glomerular sclerosis or interstitial nephritis. A boy with genetically confirmed MIRAGE syndrome, who showed microhematuria and nephrotic range proteinuria, underwent kidney biopsy at 18 months, revealing diffuse mesangial proliferation and partial segmental lobular accentuation associated with mesangial cell proliferation with neither crescentic...

Membranous-like glomerulopathy with masked IgG-kappa deposits (MGMID) is a rare entity described primarily among young females with previously diagnosed autoimmune diseases. We present a 12-year-old female with systemic juvenile idiopathic arthritis (sJIA) with persistent non-nephrotic range proteinuria despite normal kidney function. She underwent two kidney biopsies with the second ultimately confirming her diagnosis. The initial biopsy was suggestive of mild C3 glomerulonephritis (C3GN). She...

Electron microscopy (EM) has been essential for the diagnosis of dense deposit disease (DDD) and C3 glomerulonephritis (C3GN). Recent research showed significantly higher accumulation of apolipoprotein E (ApoE) in DDD compared with C3GN and tested the use of ApoE immunohistochemistry for DDD diagnosis. We aimed to investigate the diagnostic value of ApoE in DDD and C3GN using 3 distinct ApoE clones-D719N, EP1373Y, and 1B2C9. Kidney biopsies of 26 DDD and 18 C3GN, diagnosed based on EM findings,...

CONCLUSION: A substantial proportion of patients were not in remission and had persistent proteinuria despite being on IST 3 years after their first biopsy.

We present a 12-year-old boy with acute onset sensorimotor neuropathy and membranous glomerulonephritis associated with contactin-1 antibodies. This prompted us to explore the clinical characteristics of this condition and assess whether its presentation differs between pediatric and adult patients. A comprehensive search was conducted across multiple online databases, including PubMed and EMBASE, using MeSH terms such as "chronic inflammatory demyelinating polyradiculopathy", "acute...

CONCLUSIONS: Participants with MN face the burden of living with a chronic relapsing disease and associated fatigue, swelling, and substantial treatment harms with the risk of kidney failure that impact life participation and relationships. Awareness and management of these burdens and psychological support may inform care and improve outcomes among patients living with MN.

Air pollution is a global problem and a major contributor to adverse health outcomes in patients of all ages. Most research has focused on the adverse effects of air pollution on cardiopulmonary events such as myocardial infarction, stroke and lung disease, with less attention given to kidney outcomes. In recent years, there is emerging evidence that air pollution contributes to the onset and progression of chronic kidney disease and, specifically, glomerular disease. This has been confirmed in...

CONCLUSIONS: PAC was used more conservatively than guidelines suggest and was mainly driven by hypoalbuminaemia severity in both adults and children. Although not included in the guidelines practice points, DOACs were used as often as coumarins in adults.

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CONCLUSIONS: Our study indicated that children affected by MN had a specific B-cell profile and that high levels of memory B-cell subsets are specific to INS pediatric patients independently of proteinuria intensity.

CONCLUSIONS: Circulating anti-nephrin antibody may be a potential biomarker of MCD and may play a role in the MCD diagnosis.

CONCLUSIONS: Peptide vaccination induces CD8^(+) Tregs that ameliorate induction of experimental membranous nephropathy which may represent a further peripheral regulation of autoimmunity.

CONCLUSIONS: Approximately 25% of each age cohort reached the composite eGFR decline outcome within 5 years. As more glomerular disease clinical trials become available, we must consider opening these trials to people with childhood and adolescent onset disease since like adults they are at high risk of progressive kidney function decline.

Primary membranous nephropathy remains a rare but challenging condition to manage in pregnancy. We present a case of an unplanned pregnancy in a 35-year-old woman with PLA(2)R-antibody positive membranous nephropathy, who had demonstrated serological response to rituximab given three months prior to pregnancy (PLA(2)R 115 IUmL reducing to 2 IU/mL, normal <13.9 IU/mL)). Throughout pregnancy, serial measurements of proteinuria and PLA(2)R-antibodies were used to understand disease activity and...

CONCLUSION: To address the gap in measure availability and fluid overload content, the Prepare-NS team has launched a set of qualitative studies for concept elicitation from the population of interest to inform development of new measures. The resulting measures subsequently will undergo psychometric evaluation and validation in a survey study.

A 3-year-old boy initially presented with purpura-like rashes and nephrotic syndrome, suspected to be IgA vasculitis nephritis (IgAVN). The suggestion of kidney biopsy was rejected. Although the patient responded well to glucocorticoids, they later developed recurrent proteinuria, refractory diarrhea, and subsequent metabolic acidosis. Kidney biopsy showed membranous nephropathy with positive semaphorin 3B expression, indicative of other kidney diseases rather than IgAVN. Although his kidney...

Membranous nephropathy is a major etiology of nephrotic syndrome in adults and less frequently in children. Circulating antibodies to intrinsic podocyte antigens, such as M-type phospholipase A2 receptor, or to extrinsic proteins accumulate beneath the podocyte to cause damage via complement activation and/or other mechanisms. The availability of clinical testing for autoantibodies to M-type phospholipase A2 receptor has allowed noninvasive diagnosis of this form of membranous nephropathy and a...

Kimura's disease (KD) is a chronic inflammatory disorder characterized by nontender lymphadenopathy involving the head and neck region. Renal involvement in KD is rare, especially in children. We report a 12-year-old boy who had been previously treated for classical KD and had presented with anasarca and oliguria after 4 years. There were no swellings or lymphadenopathy. The kidney biopsy revealed membranous nephropathy. Remission was achieved with oral prednisolone and tacrolimus therapy. This...

CONCLUSION: This study comprehensively elucidates the distinct attributes of renal damage related to Wilson's disease, while also speculating that renal dysfunction in Wilson's disease could be linked to immune complex deposition. Depending on the underlying pathogenesis, kidney injury associated with Wilson's disease can be classified as primary or secondary. To slow down the progression of renal impairment, it is essential to undergo a renal biopsy pathological examination as early as possible...

CONCLUSION: MGMID can affect both adult and pediatric patients. Further studies are needed to fully characterize its risk factors, optimal therapy, and outcomes.

CONCLUSIONS: Among adult patients in CureGN, class 2-3 obesity is associated with cardiovascular but not kidney outcomes when adjusted for potential confounding factors.

Nephrotic syndrome (NS) is one of the common presentations of kidney diseases both in children and adults. NS patients, particularly those with membranous nephropathy, have increased risk of thromboembolic events. Heparin and vitamin K antagonists (VKAs) continue to be commonly used as prophylactic and therapeutic agents, given the experience of use of these agents in NS and nonrenal indications of anticoagulation. The use of direct oral anticoagulants (DOACs) in NS is reported in some case...

No abstract

CONCLUSION: Low concentrations of anti-CysR-IgG4, anti-CTLD1-IgG4, and anti-CTLD6-7-8-IgG4 at initial diagnosis predict rapid remission after treatment. The use of specific IgG4 against PLA2R and its different epitopes combined with eGFR and urinary protein provides a better assessment of the prognostic outcome of IMN.

Primary glomerular diseases are rare entities. This has hampered efforts to better understand the underlying pathobiology and to develop novel safe and effective therapies. NEPTUNE is a rare disease network that is focused on patients of all ages with minimal change disease, focal segmental glomerulosclerosis, and membranous nephropathy. It is a longitudinal cohort study that collects detailed demographic, clinical, histopathologic, genomic, transcriptomic, and metabolomic data. The goal is to...

CONCLUSION: Nephrotic syndrome is a chronic disease that demands extensive treatment plans and strict monitoring. Medication errors are common among parents or caregivers of pediatric patients. This case is a take-home message emphasizing the significance of patient-centered communication in preventing medication errors. A clinical pharmacist can aid in conveying simple and unambiguous information to parents or caregivers.

CONCLUSION: The distribution of glomerular diseases showed age, sex and race differences. This research will be beneficial for providing epidemiological evidence for clinical diagnosis, disease prevention and public health decision-making.

Urinary biomarkers are a promising diagnostic modality whose role was explored in nephrotic syndrome (NS). We estimated urinary apolipoprotein A1 (Apo A1) and neutrophil gelatinase-associated lipocalin (NGAL) in children with first-episode NS (FENS) and controls with a longitudinal follow-up to see the serial changes during remission. The study groups comprised 35 children with FENS and an equal number of age- and sex-matched controls. Patients were followed up at regular intervals, and 32...

CONCLUSIONS: In the largest DNASE1L3 deficiency cohort, reduction in clinical disease activity does not prevent progressive organ damage. These findings suggest that apparent disease quiescence may mask ongoing subclinical injury, underscoring the need for sustained long-term surveillance and optimised transitional care strategies. However, the findings should be interpreted with caution in light of the small sample size in this ultra-rare disease.

We report the case of a 13-year-old with systemic lupus erythematosus who received caspofungin for disseminated invasive aspergillosis and underwent continuous renal replacement therapy (CRRT) for acute kidney failure and fluid overload. The RRT membrane was made with polyacrylonitrile. During two days, blood samples were collected before and after the filter and from the effluent line to measure caspofungin concentrations and estimate total and CRRT (CL(RRT)) clearances. We found a total...

Autoimmune skin diseases, including psoriasis, cutaneous forms of systemic lupus erythematosus, and scleroderma, involve complicated interactions between genetic and environmental factors. Modern developments have pointed out the importance of regulatory epigenetic processes associated with DNA methylation, histone lactylation, and different types of non-coding RNA molecules like miRNA, lncRNAs, and circRNAs. Epigenetic factors serve as a "pacemaker" for immune cell activation, keratinocytes'...

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...

CONCLUSION: This proof-of-concept study demonstrates the feasibility of using PBMC Raman spectroscopy with ensemble learning to discriminate SLE from non-SLE populations (including healthy controls and other autoimmune diseases). The observed spectral differences provide descriptive molecular fingerprints that may guide future hypothesis-driven investigations.

CONCLUSIONS: This cross-platform analysis reveals both shared and platform-specific concerns among people with SLE, highlighting distinct informational and emotional needs across cultural and platform contexts. Recurring treatment-related misconceptions and the substantial volume of negative-sentiment discussions warrant targeted public health communication and psychological support. The findings may help clinicians, public health authorities, and patient support organizations identify unmet...

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: Differences in network density, constraint, and diversity highlight structural and relational patterns that may influence how health behaviors develop. They also reveal network configurations that position individuals to act as bridges, introducing new information and behaviors into communities where medical mistrust and systemic inequities undermine health messaging.

CONCLUSION: Laboratory changes associated with increased disease activity, including lower C3 levels, lower hemoglobin, and higher BUN and Cr were reported in cSLE patients with HTN. Given the high prevalence of HTN among cSLE patients, early diagnosis and treatment of HTN and renal involvement are crucial in the long-term outcomes of these patients.

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.].

Chronic interferon (IFN) activation is a hallmark of autoimmune diseases such as systemic lupus erythematosus and Sjögren's disease (SjD), where epithelial cells are key contributors. Although viral and retroelement triggers have been proposed as triggers, direct evidence in patient tissues is limited, and endogenous mechanisms of epithelial IFN dysregulation remain unclear. Mitochondrial double-stranded RNA (mt-dsRNA) is a potent type I IFN (IFN-I) inducer, but its regulation in epithelial...

Rheumatological disorders encompass a broad and complex spectrum of conditions, often driven by dysregulated immune responses and autoantibody formation. Increasing evidence highlights the significant overlap between rheumatological diseases and inborn errors of immunity (IEIs). The 2024 update of the International Union of Immunological Societies phenotypic classification describes 559 IEI, including 67 novel monogenic defects and 2 new phenocopies. This review examines the clinical spectrum of...

CONCLUSION: A multivariate logistic regression model incorporating serum TC, Ca, and IgG levels demonstrates strong discriminatory utility for prevalent LN in children with SLE.

CONCLUSIONS: This first genetically confirmed Moroccan case series expands the clinical and molecular spectrum of Wiskott-Aldrich syndrome in North Africa. Our findings highlight the marked clinical and genetic heterogeneity of WAS and underscore the importance of early molecular diagnosis to guide appropriate management, genetic counseling, and timely referral for curative therapy in resource-limited settings.

CONCLUSION: This case suggests that acute co-infection with EBV and CMV may play a role in the pathogenesis of SLE, possibly via molecular mimicry and B-cell activation. Therefore, routine screening for EBV and CMV in adolescent SLE patients may be warranted to advance etiological research and inform personalized treatment strategies.

CONCLUSION: In this nationwide, population-based study from an Asian population, maternal SARDs were associated with higher risks of childhood MDs. Our findings suggest early monitoring of MDs among offspring of mothers with SARDs as part of clinical practice.

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.

CONCLUSIONS: Adults with cSLE entered adult follow-up with higher baseline damage and continued to experience a higher longitudinal disease activity burden than patients with aSLE. These findings highlight the importance of early recognition, consistent longitudinal monitoring and timely escalation of therapy during earlier years of disease to reduce long-term disease burden.

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...

CONCLUSIONS: In our descriptive meta-analyses of crude IRRs among databases from various countries and settings, we did not observe increased rates of incident POTS, ME/CFS, RA, IBD, SLE and T1DM in COVID-19 versus test-negative or reinfection versus COVID-19 during the first 9 months of the post-acute phase of COVID-19 or reinfection (>90 days postinfection until month 12). Since causal interpretation cannot be made from this study, further causal research is warranted.

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...

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...

Background and Clinical Significance: Varicella, caused by the varicella-zoster virus (VZV), is typically a childhood disease; however, adult cases carry substantially higher morbidity and mortality. Immunocompromised individuals are particularly vulnerable to severe outcomes. Many adults in Japan lack documented varicella vaccination, representing a missed opportunity for preventing primary VZV infection. None of the patients had documented prior varicella vaccination. Case Presentation: We...

CONCLUSION: In a prospective cohort of well-controlled SLE patients with low disease activity delivering mostly at term, SGA and small placentas remain common. The increased prevalence of placental malperfusion lesions together with an altered balance of pro- and anti-angiogenic proteins suggests that the role of vascular and angiogenesis-related factors should be further explored in relation to SGA in SLE pregnancy.

Systemic lupus erythematosus (SLE) is a complex autoimmune disease in which neutrophils, especially the pro-inflammatory low-density neutrophil (LDN) subset, play a central pathogenic role. Yet, the molecular mechanisms that link neutrophil ferroptosis, degranulation, and interferon amplification remain incompletely understood. Through integrative bioinformatics and validation in clinical samples, we identified acyl-CoA synthetase long-chain family member 1 (ACSL1) as a pivotal regulator in SLE....

This study aimed to investigate mitochondrial gene mutations and expression in peripheral blood mononuclear cells (PBMCs) of systemic lupus erythematosus (SLE) patients, focusing on MT-ND5, and assess expression changes under lipopolysaccharide (LPS), tumor necrosis factor-α (TNF-α), and dexamethasone stimulation. Peripheral blood was collected from female SLE patients. Mitochondrial DNA (mtDNA) from PBMCs was sequenced using the HiSeq PE150 platform. Quantitative reverse transcription PCR and...

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CONCLUSION: The SLICC 2012 criteria showed superior sensitivity compared to ACR 1997, while EULAR/ACR 2019 also performed well. However, a small subset of clinically diagnosed cSLE cases remained unclassified by all criteria, highlighting the need for pediatric-specific classification frameworks.

CONCLUSION: The reduced LP activity and the higher anti-PS/PT IgG/IgM titers in PTD aPL-positive women during the first trimester suggest their use as early prognostic tools for PTD in aPL-positive pregnant women.

CONCLUSION: The LBFSS is a new, valid and feasible PROM to assess brain fog and cognitive symptoms in SLE.

CONCLUSION: Patients with JSLE, particularly those with lupus nephritis, demonstrated lower retinal vascular perfusion in the superficial and deep retinal capillary plexus compared to normative control subjects. Elevated disease activity correlated with reduced vascular density in the superficial and deep retinal capillary plexus.

Calciphylaxis is a rare and life-threatening vascular calcification disorder characterized by occlusion of subcutaneous microvessels and subsequent ischemic skin necrosis. While it is well described in adults, pediatric data remain extremely limited. A systematic literature search was conducted in PubMed, Web of Science, and Embase from inception to January 2026. Studies involving patients ≤18 years old were included. Two additional pediatric cases from our institution were also analyzed....

CONCLUSIONS: In 2016-2022 PCOS/PMOS research funding by the NIH increased by ∼50% compared to 2006-2015, albeit still less than the increase and total funding for RA and SLE. There appeared to be greater interest in PCOS/PMOS by a higher number of ICs. Recent advocacy efforts appear to be associated with increasing NIH funding. However, much remains to be done to address persistent disparities in research funding for this highly prevalent and morbid women's health disorder.

No abstract

Adenosine deaminase 2 deficiency (DADA2) is an inborn error of immunity leading to systemic vasculitis, haematological manifestations, immune deficiency and/or autoimmunity. We report the case of a 26-year-old female with an initial diagnosis of systemic lupus erythematosus (SLE). However, atypical evolution patterns for SLE (hypogammaglobulinaemia, moderate B-cell lymphopenia, disappearance of anti-dsDNA) led to the identification of a homozygous class 5 missense variant of CECR1/ADA2, thus to...

Lupus myocarditis (LM) is a rare but potentially life threatening manifestation of systemic lupus erythematous (SLE). LM may be rarely the initial presentation of SLE or ma y be presented during the course of the disease. Herein, we report a case of an adult female patient who presented with a 3-day history of abdominal pain, fever and recent onset dyspnea on exertion. Twenty-four hours later the patient developed acute heart failure went into cardiac arrest during her transfer from the internal...

Hemophagocytic lymphohistiocytosis (HLH), a severe, life-threatening hyperinflammatory syndrome driven by dysregulated immune activation, is characterized by rapid clinical deterioration and poor outcomes that pose critical challenges for clinical management. Here, we report on a female patient aged 10 years and 3 months who was diagnosed with systemic lupus erythematosus (SLE)-associated hemophagocytic lymphohistiocytosis with central nervous system (CNS) involvement. Treatment with the...

CONCLUSION: Mental health likely influences how adolescents with rheumatic disease view the impact of their disease on their quality of life and functioning. This is important to consider when applying PGA scores in research studies and clinical care. The rheumatology community must develop efficient ways to better evaluate and treat potential factors mediating their patients' overall health and functioning.

Nailfold videocapillaroscopy (NVC) provides direct, non-invasive access to the peripheral microcirculation and has become a central tool in adult rheumatology. Its primary clinical value lies in the evaluation of patients presenting with signs of Raynaud phenomenon (RP) and scleroderma-spectrum disorders. In particular, NVC facilitates the differentiation between primary and secondary (scleroderma-related) RP. The characteristic scleroderma pattern observed on NVC, including giant capillaries,...

CONCLUSIONS: Attaining LLDAS and remission was lower in our cohort than in other contemporary paediatric lupus cohorts. Remission but not LLDAS was associated with lower risk of new damage over 4.3 years of follow-up. None of these DAS were associated with mortality.

CONCLUSION: Our study demonstrated transition readiness increases at each clinic visit, with female sex and older age at enrollment positively predicting higher Transition-Q scores over time; however, longitudinal trajectories did not differ by sex. This suggests that male individuals and younger adolescents may require additional supports to optimize transition readiness.

Neuropsychiatric systemic lupus erythematosus (NPSLE) is a severe and potentially life-threatening complication of systemic lupus erythematosus (SLE), particularly in pediatric populations, in whom central nervous system involvement is often more aggressive and associated with long-term neurocognitive sequelae. Diagnosis remains challenging due to heterogeneous clinical manifestations and the lack of specific biomarkers. Traditionally, management has relied on high-dose corticosteroids,...

CONCLUSIONS: The superior sensitivity and likelihood ratio of the 2023 ACR-EULAR criteria suggest they may be a valuable tool for the classification of paediatric APS; however, further prospective validation is essential to optimise their clinical application.

INTRODUCTION: Adolescents and young adults with rare diseases face a "medical cliff" when they age out of paediatric services, losing established care relationships and disease-specific expertise. Most rare diseases begin in childhood, since 69.9% of catalogued rare diseases are of exclusively paediatric onset. The problem is acute in China, where an estimated 20 million people live with a rare disease and systematic transitional care pathways remain largely absent.

We performed this systematic review and meta-analysis to assess the efficacy and safety of anticoagulation therapy versus no anticoagulation in pediatric patients with cerebral sinovenous thrombosis (CSVT). Eligible studies included pediatric patients with CSVT that compared anticoagulation to no anticoagulation and reported on at least one relevant outcome (mortality, neurological deficit, thrombus resolution, recurrence, and bleeding). Meta-analysis reported risk ratios (RR) or differences...

CONCLUSION: These findings provide a basis for future mechanistic studies of age-related differences in adipose tissue metabolism in obesity.

CONCLUSIONS: Paediatric NB is characterised by coordinated urinary microbial dysbiosis and alterations in predicted neuroactive functional pathways that parallel disease severity. Integrating microbial taxonomic composition with predicted functional profiles substantially improved disease classification, highlighting the potential of computationally inferred neuroactive microbial signatures for disease stratification. These findings provide new insights into the microbiome-neuroactive axis in...

CONCLUSIONS FOR PRACTICE: Parents of CKD patients perceive their children as more vulnerable than parents of healthy children, yet they do not exhibit higher levels of overprotectiveness. Higher PCV was associated with increased parenting stress and anxiety, especially in parents of children with medical comorbidities. These findings underscore the importance of implementing psychosocial interventions targeting these parental adjustment outcomes in pediatric nephrology departments.

Congenital anomalies of the kidney and urinary tract (CAKUT) are among the leading causes of chronic kidney disease in children. Early and accurate evaluation is essential to preserve nephron mass and guide appropriate management. Ultrasound represents the first-line imaging modality and acts as the gatekeeper for further diagnostic investigations, while vesicoureteral reflux should be evaluated with voiding cystourethrography or contrast-enhanced voiding urosonography. Functional magnetic...

CONCLUSIONS: This study demonstrates feasibility of retrospectively extracting clinical characteristics, treatment history, and AEs from medical charts of pediatric patients with anemia of CKD.

CONCLUSIONS: One year of vosoritide treatment significantly increased linear growth in children with hypochondroplasia. (Funded by BioMarin Pharmaceutical; ClinicalTrials.gov number, NCT06455059.).

CONCLUSIONS: In INC, growth deterioration begins around 6 months with weight-length dissociation and progresses to sustained deficits in stature and weight. This pattern resembles early postnatal disturbances that durably constrain somatic development and are driven more by disease-specific disturbances than by reduced glomerular filtration.

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CONCLUSIONS: TPE is selectively used as an adjunctive therapy in children with severe or refractory AAV, particularly in those with advanced kidney involvement. Although disease activity and acute organ-threatening manifestations improved following TPE, persistent renal abnormalities remained frequent, reflecting the severity of baseline kidney disease.

CONCLUSIONS AND RELEVANCE: Cryptic AKI is clinically significant and represents true kidney injury, with a biomarker profile similar to KDIGO AKI and distinct from patients without AKI.

Organ fibrosis is the ultimate common pathway resulting from dysregulated tissue repair caused by chronic inflammation, it accounts for approximately 45% of global mortality, and there are currently no effective clinical treatments to reverse it. As the central immune cells in the fibrotic microenvironment, macrophages exhibit a high degree of phenotypic and functional heterogeneity that far exceeds the traditional M1/M2 dichotomy. Based on the latest evidence from single-cell transcriptomics...

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: These findings suggest that the QD-LFIA enabled rapid detection of anti-nephrin autoantibodies in children with idiopathic nephrotic syndrome. The QD-LFIA showed good agreement with IP-WB and identified additional anti-nephrin-positive samples undetected by IP-WB.

CONCLUSION: Circumcision significantly reduced fUTI recurrence in boys with grade III-V primary VUR and may represent an important component of conservative management in this high-risk population, whereas the added value of CAP remains uncertain.

CONCLUSIONS: Physical, psychological, and social adaptation to chronic illness is significantly associated with self-management among patients undergoing hemodialysis, suggesting that holistic nursing approaches that emphasize patient education and engagement in daily activities may enhance self-management behaviors.

CONCLUSIONS: Use of CSII and especially of CGM is associated with improved DM1 control and auxological development. The migration of children with DM1 was associated with modification of their treatment and challenges in proper assessment of nutritional status.

Premature ovarian insufficiency (POI) is a heterogeneous disorder characterised by accelerated follicular depletion and ovarian dysfunction before age 40, yet effective therapeutic strategies remain limited. Here we identify the histone demethylase KDM3A (lysine‑specific demethylase 3A) as a critical protective factor in POI. We found that KDM3A expression is significantly downregulated in both granulosa cells from idiopathic POI patients and a cisplatin‑induced POI mouse model, and its levels...

CONCLUSIONS: Doxycycline use was associated with faster first documented MP-RNA negative conversion and clinical recovery than azithromycin. These retrospective, nonrandomized findings do not establish causal superiority. Doxycycline may be considered when macrolide resistance is confirmed or strongly suspected, but prospective multicenter studies are required.

CONCLUSION: These four phenotypes offer program leaders and frontline educators an empirically grounded vocabulary for recognizing patterns of management reasoning struggle earlier and designing more targeted support.

CONCLUSION: Lower serum 25(OH)D levels were associated with higher odds of CKD progression. However, the observational nature of the evidence does not establish that routine screening or vitamin D supplementation can prevent renal function decline. Prospective studies and randomized trials are needed to clarify the clinical utility of vitamin D assessment and supplementation for renal outcomes.

Macrophage senescence is a pathological feature in aging or diseased kidneys. However, the role of senescent macrophages in kidney injury and aging has not been fully elucidated yet. We integrated the analysis of single-cell RNA sequencing datasets and the adoptively transfusion of pretreated bone marrow-derived macrophages to investigate the role of renal macrophage senescence in kidney injury. Here, we portrayed the senescence trajectory along multiple time points in infiltrating macrophages,...

Introduction Ureteropelvic junction obstruction (UPJO) remains a common pediatric urological condition that often requires surgical intervention, and the search for reliable markers to assess postoperative resolution is ongoing. Partial ureteral obstruction is associated with impaired sodium reabsorption; consequently, animal studies have consistently demonstrated natriuria in models of partial ureteral obstruction. Fractional excretion of sodium (FENa) reflects tubular function by measuring...

CONCLUSIONS: Females in Australia experience substantially reduced access to the kidney transplant waitlist, with the greatest inequities affecting those facing overlapping social and/or clinical disadvantage. The absence of sex-disparity after waitlisting indicates that inequities arise earlier in the referral and evaluation pathway. Interventions to improve equity must target these upstream stages and address intersecting drivers of disadvantage.

CONCLUSIONS: This technique appears as a safe and physiological alternative to previously described venous anastomoses to the portal system or pelvic varices, preventing chronic venous hypertension of the graft.

CONCLUSIONS: Antithrombotic therapy in pediatric and young adult patients with kidney failure on dialysis appears to be safe and may be associated with relatively low thrombotic recurrence rates, particularly when adherence is maintained and therapy is closely monitored. This observation is especially relevant given the limited age-specific evidence and the absence of standardized guidance for antithrombotic management in this population.

No abstract

Polygenic risk scores (PRS) compress genome-wide associations into a single predictor, but this aggregation obscures the distinct biological mechanisms through which genetic variation shapes complex traits. Here we introduce a framework that additively decomposes a trait's PRS, without loss of SNP heritability, into independent components defined by the tissue-specific and tissue-agnostic cis-regulatory elements (CREs) in which its variants act. Applied to blood pressure (BP) using ~0.5 million...

CONCLUSION: Probiotic supplementation may be associated with a small reduction in pediatric UTI risk, but substantial clinical and statistical heterogeneity and low-certainty evidence limit confidence in the pooled estimate. The apparent association with lower UTI recurrence should be interpreted cautiously, and the evidence does not establish an optimal probiotic dose or equivalent efficacy across strains and formulations.

CONCLUSION: This study demonstrates that OL-HDF in children on maintenance HD due to CKD resulted in significant reduction of LVMI, significant improvement of LV systolic function, significant improvement of some LV diastolic function parameters and reduction of common and internal cIMT. These findings highlight OL-HDF as a promising HD modality for enhancing both cardiac and vascular health in this vulnerable population.

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.

CONCLUSIONS: The intervention was associated with short-term improvements in knowledge, healthy lifestyle beliefs, and attitudes toward CKD; given the absence of an attention-matched control and confounding of modality with educational dosage, findings should be interpreted as association rather than established effectiveness. No significant effects were observed on clinical parameters. The internally developed knowledge instrument lacks formal factor-analytic or criterion validation.

We present COAST (consecutive multi-omics alignment of spatial tissues), a method to reliably physically align consecutive tissue sections to produce a unified multi-modal molecular dataset suitable for downstream applications. COAST relies exclusively on the images associated with spatial data, eliminating the need for common molecular features or prior annotations. We demonstrate the effectiveness of COAST using spatial transcriptomics slides from different technologies, tissues, and...

CONCLUSIONS: Children with early-onset persistent or childhood-onset accelerated weight gain presented significantly lower eGFR, which supports the influence of childhood growth patterns on later kidney function.

No abstract

Variants in the inverted formin-2 (INF2) gene are a known cause of hereditary focal segmental glomerulosclerosis (FSGS) and Charcot-Marie-Tooth disease. We report a case of rapidly progressive FSGS associated with a rare INF2 variant. A 12-year-old boy developed proteinuria and was diagnosed with FSGS at age 14 following a renal biopsy. Steroid therapy and subsequent immunosuppressive treatments, including plasma exchange, were ineffective. At age 15, a heterozygous missense variant in exon 6 of...

CONCLUSIONS: This real-world case series provides preliminary evidence that adding finerenone to baseline therapy with RASi and SGLT2i is feasible and may offer additional albuminuria reduction in Alport syndrome. However, the notable eGFR decline and the relevant incidence of hyperkalemia underscore the necessity for vigilant clinical monitoring. While multimodal nephroprotection remains a promising tool to delay disease progression, these real-world observations provide pilot data to inform...

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CONCLUSION: NSIAD should be included in the differential diagnosis of hyponatremia of unknown etiology. Genetic testing is crucial for achieving an early diagnosis, optimizing treatment regimens, and enhancing treatment compliance. Water restriction therapy, under careful monitoring, remains a safe and effective treatment modality, particularly during periods of illness.

No abstract

CONCLUSIONS: PEX paired with immunosuppression remains effective for anti-CFH Ab-associated aHUS, but further studies are needed to refine protocols and evaluate complement inhibitors for improved long-term outcomes.

CONCLUSIONS: Together, these findings showed that BCKA burden, rather than BCAA abundance alone, more closely tracked fibrotic responses and was linked to reduced pentose phosphate pathway-associated redox capacity in peritoneal fibrosis.

Granulomatosis with polyangiitis (GPA) is an uncommon vasculitis affecting small- and medium-sized vessels, predominantly in adults (average age approximately 45 years) and infrequently in children. It can involve multiple organ systems. In patients with end-stage kidney disease (ESKD) due to GPA, disease activity is often tends to wane after the commencement of dialysis. We report a 12-year-old girl with ESKD due to GPA who presented with severe gastrointestinal (GI) bleeding and profound...

CONCLUSION: With a prevalence of 42.1% within the first five years following ifosfamide administration, CKD is a common early complication, with varying severity; seven patients developed severe CKD (G4-G5). These findings highlight the importance of awareness and long-term kidney function surveillance, especially in patients with a history of AKI.

CONCLUSION: This quantitative index provides an evidence-based tool for pediatric off-label drug decisions, supporting clinicians, policymakers, and standardization efforts.

Overlap between acute interstitial nephritis (AIN) and glomerulonephritis is uncommon and diagnostically challenging. We present the first pediatric case of clinically diagnosed immunoglobulin A vasculitis nephritis (IgAV-N) concurrent with nonsteroidal anti-inflammatory drug (NSAID)-induced AIN. A 14-year-old boy was hospitalized for recurrent gastroenteritis, purpura, and arthralgia treated with ibuprofen. After 5 days, he developed stage 3 acute kidney injury, subnephrotic proteinuria,...

CONCLUSION: The most common dental manifestations of 22q11.2DS are DDE, dental caries, and oral dysfunctions. No direct correlation was found between oral health and immunological status or calcium-phosphorus metabolism. Caries is a significant problem and more dependent on age than on oral hygiene alone. Patients require early, comprehensive, and coordinated care from dentists, orthodontists, and speech-language pathologists.

CONCLUSION: Cross-border marriage children had lower odds of developing rhinitis and eczema than those from native families, highlighting the importance of genetics or interactions between genetic and environmental influences on allergies. Additionally, gene-environment interactions exhibited varying impacts on childhood allergies.

CONCLUSIONS: Vaccination coverage of CKD patients is suboptimal for vaccines particularly important for their condition and their family members are insufficiently informed about potential contribution to their protection by cocooning strategy.

Patients with rare diseases are particularly vulnerable during emergencies due to dependence on specialised care pathways, medicines, and expertise. European Reference Networks (ERNs) for rare and complex diseases have operated since 2017 and were confronted with two major crises: the COVID-19 pandemic and the war in Ukraine. To assess ERN experiences, responses, and preparedness for crisis and disaster situations, we conducted a cross-sectional survey of all 24 ERN coordinators between July and...

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.

CONCLUSION: Kidney dysfunction is common in pediatric COVID-19 cases, particularly in severe disease. AKI was strongly associated with worse outcomes, including mortality. Early detection and management of kidney involvement are essential to improving prognosis in pediatric COVID-19 patients.

CONCLUSION: This review sheds light on the importance of testing PROMs in patients with PCC using these questionnaires and the need for further testing their validity in this condition.

CONCLUSIONS: AlloHCT recipients achieve humoral immunity comparable to healthy individuals after three vaccine doses, supporting efficacy and safety of repeated SARS-CoV-2 vaccination in this vulnerable population.

CONCLUSIONS: DKA frequency increased across the study period, with a peak during the pandemic. This findings should be interpreted in the context of global epidemiological data, where the prevalence of DKA at diagnosis of type 1 diabetes remains high and varies widely between countries, reaching around 50% in some populations. Therefore, coordinated country-level actions aimed at improving awareness of early diabetes symptoms are needed to reduce the persistently high rate of DKA.

CONCLUSIONS: In this US cohort, severe PrAKI appears to be associated with acute systemic illness occurring in the setting of underlying chronic cardiometabolic vulnerability. The dissociation between rising mortality and stable dialysis utilization underscores the need for earlier risk stratification and multidisciplinary care to reduce maternal mortality.

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: More than 750 million cases of COVID-19 have been reported worldwide. The respiratory system, particularly the lungs, is one of the main targets of SARS-CoV-2 infection. Although persistent pulmonary function abnormalities have been described in adults, evidence in pediatric populations remains limited and inconsistent. Children usually experience a milder course of COVID-19; however, the long-term impact of SARS-CoV-2 infection on respiratory function in this group is still unclear....

CONCLUSIONS: The use of COVID + donors for pediatric kidney transplantation has increased over time. The posttransplant outcomes are similar between COVID + and COVID - pediatric recipients, supporting the use of COVID + donors in this population.

Persistent symptoms following SARS-CoV-2 infection in children remain poorly understood, and objective biological correlates are scarce. The vascular endothelium is considered a central target of post-viral dysregulation, yet paediatric evidence for microvascular involvement is limited. Retinal imaging enables non-invasive assessment of microvascular structure and function and may help to clarify whether endothelial dysregulation is present in children with post-COVID-19 syndrome (PCS). Retinal...

CONCLUSION: Sex differences exist in post-vaccination symptoms after BNT162b2 administration in young children and adolescents. These are of importance for the conception of approval studies, for post-vaccination monitoring and for future vaccination strategies.

CONCLUSION: MIS-C occurred predominantly after first SARS-CoV-2 infections; while evidence for a lower risk following reinfection was suggestive but not conclusive.

This retrospective study presents a 10-year-old male with multi-systemic venous thromboembolism (VTE) secondary to COVID-19, including right ventricular thrombus(40 mm × 18 mm), bilateral iliac vein thrombosis, pulmonary embolism, and renal vein thrombosis. The child presented with fever, abdominal pain, and elevated inflammatory markers (CRP 222.72 mg/L, WBC 22.41 × 10^(⁹)/L). Imaging confirmed extensive thrombi in the right ventricle, pulmonary arteries, and lower extremities. Anticoagulation...

In the SARS-CoV-2 endemic phase, assessing the effectiveness of COVID-19 booster doses in children is essential for public health policy. This study evaluated the vaccine effectiveness (VE) of three doses (primary series plus booster) against severe outcomes, comparing the pandemic and endemic periods and children with and without comorbidities. We carried out a cohort study based on the population, utilizing comprehensive Brazilian data from individuals under 18 years of age with confirmed...

BACKGROUND: Better evaluation of the contribution of the main diseases, injuries, and risk factors for mortality and life expectancy is crucial for more efficient policy making at the national and subnational levels in Iran. The aim of this study is to assess the effect of emerging causes of mortality on health, specifically COVID-19, which can help policy makers implement preventive measures in similar situations.

BACKGROUND: Atypical hemolytic uremic Syndrome (aHUS), a form of thrombotic microangiopathy (TMA), had a poor prognosis until the development of complement C5-inhibiting monoclonal antibodies, eculizumab and ravulizumab. While ravulizumab has shown effectiveness in treating postpartum TMA, data about its use during pregnancy remains lacking. CASE PRESENTATION: A 32-year-old woman with a history of aHUS was initially diagnosed in 2018 at the age of 27 after presenting with microangiopathic...

CONCLUSION: The humoral response to COVID-19 was similar in children with idiopathic nephrotic syndrome compared to control children, suggesting that routine vaccination schedules remain appropriate in this group. These findings suggest preserved antibody responses in this population; however, due to the exploratory nature of this study, larger studies are needed before clinical recommendations can be modified.

The European Confederation of Medical Mycology Candida III was a pan-European, multicenter observational study of adult patients with blood culture-proven candidemia. Among a total of 632 patients with candidemia across 64 institutions in 20 European countries, a subanalysis of 396 (63%) cases occurring outside the intensive care unit (ICU) was conducted. Compared with ICU patients, non-ICU patients had a higher comorbidity burden (median Charlson comorbidity index [CCI] 6 vs 5 in ICU patients,...

BACKGROUND: Meningitis remains the leading infectious cause of neurological disabilities globally, disproportionately affecting children younger than 5 years and populations in the African meningitis belt. Whereas previous global estimates focused on ten pathogen categories, this study presents the most comprehensive analysis to date, assessing the meningitis burden attributable to 17 causative pathogens based on the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2023...

Health care is shifting towards a digital-guided system, integrating digital diagnostics, biomarkers and therapeutics in many care pathways. However, despite rapid technological advancement and preliminary adoption accelerated by the COVID-19 pandemic, a significant implementation gap persists. This narrative review explores the causes of this gap, highlighting several examples from early development to final implementation. These show that technical validation alone is insufficient. Success...

CONCLUSION: Post-COVID condition remains a burden despite vaccination. Distinct symptomatology patterns across VoC and timelines highlight the need for tailored management strategies to mitigate long-term global impacts.

BACKGROUND: Breast cancer is a leading cause of mortality and morbidity among females worldwide. As part of the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2023, we provided an updated comprehensive assessment of the epidemiological trends, disease burden, and risk factors associated with breast cancer globally, regionally, and nationally from 1990 to 2023.

CONCLUSIONS: Real-world CytoSorb® use as part of standard care in critically ill patients was associated with improvements in several clinical and laboratory parameters; however, these findings should be interpreted cautiously given the observational design and absence of a control group. Observed mortality was lower than mortality estimates historically associated with established severity scores.

Background/Objectives: Post-COVID-19 muscle weakness is common even after mild or moderate infection, driven by systemic inflammation, prolonged inactivity, and reduced functional reserve. This study aimed to describe changes in global muscle strength assessed using the Medical Research Council (MRC) scale in adults recovering from mild or moderate COVID-19 who participated in a structured two-week rehabilitation program, and to compare these changes with those observed under standard medical...

Background: Acute kidney injury (AKI) is increasingly recognised in children with acute COVID-19 and multisystem inflammatory syndrome in children (MIS-C), yet the long-term renal consequences in younger paediatric populations remain unclear. Most studies focus on acute illness or mixed-age cohorts, with limited data specific to children aged 0-12 years. Objectives: This study aimed to systematically identify, evaluate, and synthesise evidence on post-acute (≥30 days) and long-term (≥90 days)...

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...

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.

CONCLUSION: Combined daratumumab and anti-CD20 therapy appears to be an effective rescue strategy for refractory INS, in native kidneys and post-transplant. It induces rapid and sustained remission, enabling discontinuation of apheresis. Prospective studies are warranted to optimize treatment regimens and identify predictive biomarkers of response.

CONCLUSION: Long-term respiratory sequelae and fatigue occurred after both MIS-C and severe COVID-19, but respiratory symptoms and impaired HRQoL were more frequent after COVID-19. Lung function and CPET abnormalities in children with COVID-19 often corresponded with symptoms. Children with MIS-C often showed CPET abnormalities without respiratory complaints or lung function changes.

CONCLUSION: The findings highlight a complex interplay between pandemic conditions and observed positivity rates. The increase likely stemmed from multiple factors, including shifted testing focus, altered healthcare-seeking behavior, and potential viral reactivation. The COVID-19 response offers insights for optimizing future viral hepatitis control strategies during public health emergencies. Future research should expand demographic and geographic scope and investigate behavioral/social...

Background and Objectives: COVID-19 has been associated with prolonged inactivity and reduced physical performance, even in mild and moderate cases. This study aimed to evaluate changes in functional mobility and gait speed, assessed with the Timed Up and Go (TUG) and 10-Meter Walk Test (10MWT), in patients with mild to moderate post-COVID-19 conditions undergoing a structured rehabilitation program. Materials and Methods: A controlled observational study was conducted on 193 patients (115...

CONCLUSIONS: The HAYATI app effectively filled a critical surveillance gap during the early pandemic phase in Lebanon. By integrating GIS technology, automated risk stratification, and community-level engagement, it provided a scalable model for public health surveillance in resource-limited settings. This approach has potential for broader applications in managing future outbreaks and endemic diseases through decentralized, real-time digital health strategies.

CONCLUSION: China's pandemic control measures created significant barriers to dialysis access and contributed to heightened psychological distress among patients. In response, many individuals employed self-management strategies to reduce the impact of these disruptions. The findings highlight the need for patient-centered interventions, particularly those aimed at enhancing transportation accessibility, incorporating mental health support, and addressing disparities in rural healthcare. Future...

CONCLUSIONS: The COSMOS registry highlights CS-associated improvements in lactate, creatinine, norepinephrine needs, fluid balance, and oxygenation. Mortality was favorable compared with risk-based predictions.Trial registration Clinicaltrials.gov Identifier: NCT05146336.

CONCLUSION: We found a significantly higher incidence of APSGN and its associated complications during the post-COVID period.

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.

BACKGROUND: For more than three decades, the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) has provided a framework to quantify health loss due to diseases, injuries, and associated risk factors. This paper presents GBD 2023 findings on disease and injury burden and risk-attributable health loss, offering a global audit of the state of world health to inform public health priorities. This work captures the evolving landscape of health metrics across age groups, sexes, and...

BACKGROUND: Timely and comprehensive analyses of causes of death stratified by age, sex, and location are essential for shaping effective health policies aimed at reducing global mortality. The Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2023 provides cause-specific mortality estimates measured in counts, rates, and years of life lost (YLLs). GBD 2023 aimed to enhance our understanding of the relationship between age and cause of death by quantifying the probability of...

BACKGROUND: Cancer is a leading cause of death globally. Accurate cancer burden information is crucial for policy planning, but many countries do not have up-to-date cancer surveillance data. To inform global cancer-control efforts, we used the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2023 framework to generate and analyse estimates of cancer burden for 47 cancer types or groupings by age, sex, and 204 countries and territories from 1990 to 2023, cancer burden...

Coronavirus disease 2019 (COVID-19) affected billions of individuals globally, with symptoms ranging from isolated blood clotting to severe acute hypoxemic respiratory failure requiring intensive respiratory support ventilators. Those with advanced chronic kidney disease (CKD stage 5) were at high risk of severe disease faced a particularly heightened risk of severe illness. Inflammation and associated immune-thrombotic events in CKD stage 5 have attracted increasing attention, yet remain poorly...

Objective: The COVID-19 pandemic disrupted the seasonal pattern of RSV infections, increasing cases outside the typical epidemic season. This study aimed to assess the pandemic's impact on the clinical characteristics of RSV infections in children hospitalized at the Polish Mother's Memorial Health Institute in Łódź, based on a 9-year observation period from 2016 to 2024. Methods: A retrospective analysis was conducted on 330 children hospitalized for RSV between 2016 and 2024. Patients were...

CONCLUSION: This case report highlights the importance of considering DD in differential diagnoses of children with the pseudo-Bartter syndrome, that is, renal salt and potassium wasting, with or without hypercalciuria and nephrocalcinosis. Additionally, in children with rickets and proteinuria, urinary low-molecular-weight protein measurement could assist in screening for the possibility of DD, particularly in low-resource settings.

CONCLUSIONS: Local and systemic hyperactivation of innate immunity characterizes acute pyelonephritis, a common and severe bacterial infection in childhood and a significant cause of urosepsis and mortality in adults. The results define a transient cytokine storm response, resembling that induced during severe acute respiratory syndrome coronavirus 2 infection, as characteristic of acute pyelonephritis, rather than individual protein biomarkers.

Post-Acute Sequelae of SARS-CoV-2 infection (PASC or "Long COVID"), includes numerous chronic conditions associated with widespread morbidity and rising healthcare costs. PASC has highly variable clinical presentations, and likely includes multiple molecular subtypes, but it remains poorly understood from a molecular and mechanistic standpoint. This hampers the development of rationally targeted therapeutic strategies. The NIH-sponsored "Researching COVID to Enhance Recovery" (RECOVER)...

CONCLUSIONS: This study demonstrates that agalsidase beta is safe and effective in Chinese patients with Fabry disease, and suggestes that COVID-19 infection may potentially impact the renal prognosis for Fabry disease.

CONCLUSION: Adolescent candidates evaluated during the COVID-19 pandemic had significantly higher executive functioning and mental health concerns compared to those evaluated before the pandemic; however, no significant differences were found in the mean scores for preadolescent candidates.

In the original publication [...].

The safety of XBB.1.5-containing COVID-19 mRNA vaccines warrants investigation. We assessed the relative risk of 15 adverse events following the XBB.1.5 vaccination using a self-controlled case series study design with data from the National COVID Cohort Collaborative (N3C) from September 11, 2023, to June 1, 2024 in the USA. Based on a baseline population of 244,494 patients, adverse events included Guillain-Barré syndrome, seizure, non-hemorrhagic stroke and transient ischemic attack,...

ObjectiveWhile triple antiphospholipid antibody (aPL) positivity is associated with a higher risk of thrombosis, the clinical significance of single aPL positivity remains unclear. This study aimed to assess the prevalence, clinical characteristics, and cardiovascular disease (CVD) risk profile of persistently single aPL-positive primary antiphospholipid syndrome (PAPS) patients.MethodsWe conducted a retrospective analysis for APS patients from the APS ACTION registry with confirmed persistent...

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.

Background: Lupus nephritis (LN), a major complication of systemic lupus erythematosus, remains a key determinant of morbidity and mortality despite therapeutic progress. Objective: An expert report aims to present multidisciplinary insights from leading Italian centers on current LN management and future perspectives. Methods: Seven specialists-including nephrologists and rheumatologists with expertise in lupus nephritis-addressed key aspects of LN management, including treatment goals,...

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 to 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...

Over the last decades, long-term survival after pediatric liver transplantation (LT) has improved substantially, highlighting the importance of long-term graft and recipient outcomes. Metabolic syndrome, a combination of components associated with increased cardiovascular risk, is a well-defined concept in the general adult population. The same components can be present after LT leading to post-transplant metabolic syndrome (PTMS). In children, PTMS is estimated to be prevalent in around 14%-20%...

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.

CONCLUSIONS: The pharmacokinetics of eculizumab are similar in patients with atypical hemolytic uremic syndrome and patients with paroxysmal nocturnal hemoglobinuria, yet less variable in patients with paroxysmal nocturnal hemoglobinuria. Alternative dosing regimens can improve treatment in terms of efficacy and patient friendliness.

Following the alerts issued by the French health authorities and the craze among parents wishing to use natural medicine, many cases of intoxication have occurred in recent years. We aimed to describe vitamin D intake by patients under 18 months of age in three hospitals in the Great West of France and via social networks. Data were collected on the caregivers (age, place of residence, vitamin D supplementation during mother's pregnancy, opinion on vitamin D), the patient (age, place in sibling...