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.

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...

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

Various aggressive lymphomas entities have been associated with immunodeficiency. To provide further evidence that also MYC-negative high-grade B-cell (formerly Burkitt-like) lymphoma with 11q aberrations comprises an immunodeficiency-related subtype, we here conducted a comprehensive pathological and genetic workup of a 25-year-old patient with this type of lymphoma and simultaneous papillary renal cell carcinoma. The patient developed both malignancies following extensive childhood...

CONCLUSION: The majority of patients with pediatric AAV achieve inactive renal disease by 12 months; however, almost half have evidence of damage. Renal function at diagnosis is a strong predictor of renal function at 12 months.

Idiopathic Nephrotic Syndrome (INS) is a common childhood glomerular disease requiring intense immunosuppressive drug treatments. Prediction of treatment response and the occurrence of relapses remains challenging. Biofluid-derived extracellular vesicles (EVs) may serve as novel liquid biopsies for INS classification and monitoring. Our cohort was composed of 105 INS children at different clinical time points (onset, relapse, and persistent proteinuria, remission, respectively), and 19 healthy...

The molecular mechanisms responsible for the heightened reactivity of quiescent T cells in human early life remain largely elusive. Our previous research identified that quiescent adult naïve CD4^(+) T cells express LINE1 (long interspersed nuclear elements 1) spliced in previously unknown isoforms, and their down-regulation marks the transition to activation. Here, we unveil that neonatal naïve T cell quiescence is characterized by enhanced energy production and protein synthesis. This...

Maintenance peritoneal dialysis (PD) is the most used kidney replacement therapy for children with kidney failure throughout the world. Underlying causes of kidney failure, indications for dialysis, body size, and nutritional requirements differ between children and adults on PD. These differences, along with the ongoing growth and development that occurs throughout childhood, impact PD access, prescription, and monitoring in children. This review highlights the unique challenges and management...

CONCLUSION: Life expectancy of 18-year-old kidney transplant recipients was lower compared with the general population, yet having a functioning kidney graft at age 18 years resulted in better outcomes than being on dialysis. Nevertheless, between ages 18 and 23 years, about one-fifth of the kidney grafts failed and one-third of the patients remained on dialysis.

CONCLUSIONS: The case demonstrates how important it is in these subjects to evaluate not only the kidneys but also the liver which could present polycystosis and cause liver failure, affecting the severity of the pathology and death. This data is important to emphasize in the clinical management of these patients a close monitoring of liver function also from a preventative perspective in life.

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

CONCLUSIONS: Rescaled serum creatinine (SCr/Q) slightly increases during multidiscipline lifestyle intervention in this cohort of children with overweight and obesity. This effect seems to be independent from change in BMI z-score. Whether this minor decrease in estimated kidney function has clinical consequences in the long term remains to be seen in trials with a longer follow-up period.

As outcomes and survival for children with chronic kidney disease (CKD) have improved over the last 30 years, there is an emerging need to characterize and understand later educational and employment outcomes across the spectrum of pediatric CKD severity-ranging from mild CKD to requirement for dialysis and kidney transplantation. Although large-scale research on the topic of long-term educational and employment outcomes in the pediatric CKD population is relatively scarce, the existing...

CONCLUSIONS: In the presence of Stx-1 or TNF-α or both treatments, ECs were activated, expressing higher levels of P-selectin and lower levels of VWF. Our findings, further, provide evidence that Stx-1 downregulates ERG, repressing angiogenesis in vitro.

CONCLUSIONS: In this 11-year follow-up report of 2 Israeli families with AME, patients who presented early maintained long-term normal kidney function, while those who presented late progressed to ESKD. Nevertheless, despite early diagnosis and management, AME is commonly associated with serious complications of the disease or its treatment.

Children with end-stage kidney disease (ESKD) face a lifetime of complex medical care, alternating between maintenance chronic dialysis and kidney transplantation. Kidney transplantation has emerged as the optimal treatment of ESKD for children and provides important quality of life and survival advantages. Although transplantation is the preferred therapy, lifetime exposure to immunosuppression among children with ESKD is associated with increased morbidity, including an increased risk of...

CONCLUSION: Worse Black and White disparities in SLE outcomes are observed at children's hospitals serving more Black children, whereas distinct patterns are observed for Hispanic and non-Hispanic disparities. Reporting of hospital characteristics related to populations served is needed to identify modifiable drivers of hospital-level variation.

CONCLUSION: PH1 is not an isolated kidney disease but a systemic disease. Family screening helps to preserve kidney function and prevent systemic complications. Despite all efforts made with traditional treatment methods including transplantation, our results show devastating outcomes or mortality.

CONCLUSIONS: Kidney outcome in patients with biopsied IgA vasculitis nephritis treated with immunosuppression was determined by clinical risk factors and endocapillary hypercellularity (E1) and fibrous crescents, which are features that are not part of the International Study of Diseases of Children classification.

CONCLUSIONS: TNF inhibitors BIOs are effective in reducing the number of ocular uveitis relapses, preserving visual acuity, allowing a significant GCs-sparing effect, and preventing structural ocular complications.

CLINICAL CHARACTERISTICS: Autosomal recessive polycystic kidney disease – PKHD1 (ARPKD-PKHD1) is characterized by primary involvement of the kidneys and liver with mostly secondary effects seen in other organ systems. Of the three ages of initial presentation of kidney disease, the two most common are perinatal (i.e., prenatal/neonatal) and infantile (four weeks to age one year) with the classic finding of enlarged kidneys. The major difference between the perinatal and infantile presentations,...

CLINICAL CHARACTERISTICS: WT1 disorder is characterized by congenital/infantile or childhood onset of steroid-resistant nephrotic syndrome (SRNS), a progressive glomerulopathy that does not respond to standard steroid therapy. Additional common findings can include disorders of testicular development (with or without abnormalities of the external genitalia and/or müllerian structures) and Wilms tumor. Less common findings are congenital anomalies of the kidney and urinary tract (CAKUT),...

CLINICAL CHARACTERISTICS: Primary hyperoxaluria type 1 (PH1) is caused by deficiency of the liver peroxisomal enzyme alanine-glyoxylate aminotransferase (AGT), which catalyzes the conversion of glyoxylate to glycine. When AGT activity is reduced or absent, glyoxylate is converted to oxalate, which cannot be metabolized and must be excreted by the kidneys. Insoluble calcium oxalate crystals form due to high urinary oxalate concentration. Urinary crystals aggregate, leading to nephrolithiasis...

CONCLUSION: Included studies were mostly small, single-center, and methodologically heterogeneous. There was a lack of consensus on diagnostic criteria and limited long-term follow-up data. Steroid-induced AI is a common and potentially under-recognized complication in children with idiopathic NS, especially in high-risk groups. Due to inconsistent diagnostic practices, the actual prevalence of AI is unclear. There is a critical need for further research, standardized testing protocols, and...

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Amyloid deposition is an increasingly recognized contributor to chronic kidney disease and end-stage renal disease. It can result from various underlying conditions, including monoclonal gammopathies and chronic inflammatory states. Diagnosis is typically established by kidney biopsy demonstrating characteristic amyloid deposits. ALECT2 (leukocyte chemotactic factor 2) amyloidosis can present as nephrotic-range proteinuria. ALECT2 amyloidosis is an uncommon and under-recognized.

Although injury in glomerular disease might only damage a subset of podocytes in any given glomerulus, the response of the healthy neighboring podocytes to the injured podocytes oftentimes determines the course of the disease. To investigate this relationship, we designed a dual chamber open microfluidic co-culture device to specifically examine paracrine signaling from podocytes undergoing targeted injury by either Adriamycin, Puromycin Aminonucleoside, or a cytopathic anti-podocyte antibody to...

CONCLUSIONS: This dual-agent immunotherapeutic strategy achieved unprecedented depletion of high-titer, preformed anti-HLA antibodies and represents a promising approach for patients with prohibitive sensitization.

Membranoproliferative glomerulonephritis due to immune complexes (MPGN-IC) idiopathic is a diagnosis of exclusion, made after ruling out the most common etiological processes associated with this pattern of glomerular injury (infectious, autoimmune diseases, gammopathies, among others). Idiopathic MPGN-IC shares with C3 glomerulopathy the activation of the alternative complement pathway, often evidenced by decreased serum C3 levels. Currently, there is no specific treatment for this type of...

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CONCLUSION: Concomitant septic arthritis with femoral head osteonecrosis should be considered when treating patients on steroids or immunosuppressants. An elevated erythrocyte sedimentation rate and C-reactive protein in a patient with osteonecrosis warrants additional investigations, including ultrasound-guided aspiration and culture, before core decompression or any surgical intervention even in immunocompetent patients.

Adult-onset Still's disease (AOSD) is a systemic inflammatory disease characterized by spiking fever, salmon-pink skin rash, and polyarthritis. Overproduction of interleukin (IL)-1 and IL-6 is one of the causes of AOSD, the pharmacological inhibition of which was proven to be effective. Meanwhile, uncontrolled AOSD causes several complications, such as reactive hemophagocytic lymphohistiocytosis; however, kidney involvement has been barely studied because of its rarity. We encountered a...

CONCLUSIONS: The results indicate that interventions for adolescents with chronic illnesses should consider the parent-child subsystem as a unit and strengthen emotional support for both parties. Such strategies may be beneficial across varied cultural and clinical contexts.

CONCLUSION: A four-variable admission nomogram can stratify early HS risk in children with NS using routine data. External multicentre validation remains necessary.

Steroid-resistant nephrotic syndrome (SRNS) represents a major therapeutic challenge in pediatric nephrology, being associated with poor prognosis and increased risk of progression to chronic kidney disease. Over the past decade, several therapeutic strategies have been evaluated, but evidence regarding their efficacy and safety remains heterogeneous. The main objective of this study is to systematically review the efficacy and safety of therapies for pediatric idiopathic SRNS. We systematically...

CONCLUSIONS: Although rare, acute CsA overdose in children can pose serious risks. This case and review underscore the symptoms of overdose and prompt intervention to prevent complications.

Diffuse podocytopathy (DP) is a clinical and pathological entity, which comprises minimal change disease and primary focal segmental glomerulosclerosis (FSGS). It is characterized by diffuse podocyte foot process effacement resulting in nephrotic syndrome. Cumulative evidence supports that DP is a complex disease caused by circulating permeability factors. Following kidney transplantation, DP may recur and severely compromise graft survival. However, prior studies aiming to define immune and...

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CONCLUSIONS: Patients with one relapse on prednisone equivalent of ≥ 0.5 mg/kg/every other day are at high risk of an eventual diagnosis of frequently relapsing/steroid-dependent nephrotic syndrome. Further studies are needed to determine whether a single relapse above this cutoff is reliable enough to enable clinicians to switch patients to steroid-sparing agents before meeting formal criteria for frequently relapsing/steroid-dependent disease.

This report describes a preterm male neonate who presented in his second month of life with seizures, anasarca and severe hypoalbuminaemia. Laboratory evaluation revealed heavy proteinuria, electrolyte disturbances and microbiological seropositivity (cytomegalovirus, herpes simplex virus, rubella), while urine culture isolated Klebsiella Whole-exome sequencing confirmed a homozygous NPHS1 variant consistent with Finnish-type congenital nephrotic syndrome. The infant required mechanical...

A 73-year-old woman had been treated with nintedanib for 40 months for idiopathic pulmonary fibrosis. She presented to our hospital with lower extremity edema since a month and nephrotic syndrome (serum albumin 2.0 mg/dL, urine protein 7.97 g/g Cr). We performed a renal biopsy and diagnosed membranous proliferative glomerulonephritis (MPGN)-type IgA nephropathy (IgAN). We hypothesized that nintedanib-induced microangiopathy modified subclinical IgAN and caused the appearance of MPGN-type IgAN...

Minimal change disease (MCD) is a common cause of nephrotic syndrome and typically responds well to glucocorticoid therapy. Although spontaneous remission is considered rare, its true frequency may be underestimated, possibly due to the early initiation of treatment in most cases. We report a case of a 45-year-old male who developed nephrotic syndrome following an influenza infection. A kidney biopsy revealed findings consistent with minimal change disease, including diffuse foot process...

CONCLUSION: The combined model incorporating four noninvasive urinary proteomic signatures and clinical characteristics significantly improved performance of predicting clinical remission in PMN patients compared to the clinical-feature-only model. Furthermore, molecular subtyping of the urinary proteome can identify patients at high risk for relapse. These findings provide a foundation for integrating advanced proteomics into personalized prognostic assessment for PMN patients, pending external...

CONCLUSIONS: This study describes the clinicopathologic characterization of biopsy-proven renal involvement in patients with psoriasis. The observed associations between psoriasis and various renal pathologies cannot establish causality and likely reflect a complex interplay of systemic inflammation, metabolic comorbidities, and treatment effects. These findings highlight the heterogeneity of renal involvement in psoriasis patients and underscore the importance of renal biopsy for accurate...

CONCLUSION: Oral ManNAc demonstrated short-term safety and increased plasma SA levels in podocytopathy subjects. Early efficacy signals suggest that proteinuria reduction may correlate with glomerular hyposialylation, identifying a potential treatment biomarker. A phase 2 trial (NCT06664814) is underway to assess long-term outcomes.

​​Pediatric idiopathic nephrotic syndrome (INS) includes steroid-sensitive (SSNS) and steroid-resistant (SRNS) forms, which differ in treatment response and prognosis. We constructed a polygenic risk score (PRS) using summary statistics from the largest pediatric SSNS GWAS meta-analysis (2,440 cases and 36,023 controls) and evaluated it in an independent Chinese cohort of 2,507 controls, 123 SRNS patients, and 493 SSNS patients. ANOVA showed significant between-group differences (F (2, 3120) =...

Postoperative hypoalbuminemia (POHA) remains one of the major complications following total hip arthroplasty (THA) in patients with end-stasge hip disease. Identifying factors that can reduce the incidence of POHA is crucial for improving clinical outcomes in these patients. Our study aimed to develop and validate a nomogram that can pre-operatively quantify an individual patient's risk of POHA. We retrospectively reviewed patients aged ≥65 years who underwent primary unilateral THA between...

Proteinuria has been linked to several genetic disorders, providing valuable insights into its pathophysiology. ReNU syndrome, a recently described condition caused by heterozygous variants in the RNU4-2 gene, is characterized by intellectual disability, microcephaly, and multisystemic features. Kidney involvement has been reported exclusively as anatomical abnormalities. Here, we presented a girl with isolated proteinuria and ReNU syndrome. Her prenatal history was notable for a small head...

CONCLUSION: Obinutuzumab treatment is extremely effective and safe in patients with MN and rituximab-resistant NS and can achieve persistent remission in this population.

Hereditary steroid-resistant nephrotic syndrome (HSRNS) due to mutations in the NPHS2 gene (encoding podocin) is a rare genetic condition that typically presents in childhood. We report a case of a 2-year-and-8-month-old male, the seventh child of consanguineous parents, who presented with recurrent fever, febrile tonic-clonic seizures, and periorbital edema. His medical history included multiple hospitalizations in infancy due to suspected sepsis and chest infections. Upon admission, laboratory...

Membranous nephropathy (MN) is the most common cause of adult nephrotic syndrome. Current treatments rely heavily on immunosuppressants; however, some patients do not achieve the desired therapeutic effect. Therefore, the identification of new drug targets and the development of novel medications are of urgent importance. In this study, we collected protein quantitative trait loci (pQTLs) for 734 circulating plasma proteins (CPPs) from previous research. Using principles of Mendelian genetics,...

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CONCLUSIONS: Kidney histology determines distinct clinical trajectories in MM patients, with CN showing potential for dialysis reversibility. Modern combination therapies significantly improve renal outcomes. The requirement for ongoing KRT, was the primary predictor of overall survival.

Mitochondria-mediated apoptosis is the key determinant of glomerular podocyte injury. NOD-like receptor family pyrin domain proteins (NLRPs) are aberrant in clinical kidney diseases, but the role in podocyte mitochondrial dysfunction is unclear. Here, we first observed only NLRP6 expression change in nephrotic syndrome patients with proteinuria. Next, we found that mouse glomerular podocyte NLRP6 expression was increased in high fructose-induced proteinuria with mitochondria-mediated apoptosis....

Renal involvement in chronic lymphocytic leukemia (CLL) is uncommon but can lead to significant morbidity. Membranoproliferative glomerulonephritis (MPGN) is among the most frequently reported glomerular lesions associated with CLL and may presents with nephrotic syndrome. Early recognition of the association between renal lesions and CLL is crucial for guiding treatment and improving both renal and hematologic outcomes. We report two biopsy-proven cases of CLL-associated MPGN successfully...

Background: Chronic kidney disease (CKD) affects up to 40% of individuals with diabetes mellitus. Given the fact that CKD in diabetics may result from various non-diabetic renal disorders, kidney biopsy remains essential in cases with atypical clinical presentation. The aim of this study was to assess the prevalence of diabetic nephropathy (DN) and other non-diabetic kidney diseases (NDKD) among diabetic patients who underwent renal biopsy. We also tried to find clinical and laboratory markers...

Background/Objectives: We evaluated Goreisan, a traditional Chinese medicine, for its effects on nephrotic syndrome in a rat model. Methods: Male Sprague-Dawley rats underwent right nephrectomy at 5 weeks of age, followed by adriamycin administration (5 mg/kg) at 6 and 8 weeks of age to induce nephrotic syndrome. At 10 weeks, rats were divided into three groups: vehicle (control), Goreisan 0.5 g/kg (GL), and Goreisan 1.0 g/kg (GH). Goreisan was administered daily for 4 weeks. At 14 weeks, blood,...

CONCLUSION: The IGVL gene usage is associated with distinct clinicopathological features in renal AL amyloidosis, IGLV6-57 is linked to a higher frequency of full nephrotic syndrome, IGKV1 is associated with severe kidney structural damage and hepatic tropism, and IGLV1-51 potentially predicts poor renal survival.

Pierson syndrome (PS) is a rare autosomal recessive disorder, primarily characterized by (1) congenital nephrotic syndrome, (2) ocular abnormalities, and (3) neurodevelopmental deficits. It is caused by mutations in the LAMB2 gene, which encodes the laminin β2 chain-a protein subunit that is part of a specific group of proteins known as laminins. These proteins are present in the glomerular basement membrane, neuromuscular junctions, and ocular structures. Although PS exhibits a wide spectrum of...

Severe aortic stenosis typically presents with reduced exercise tolerance, exertional chest pains, or syncope. We report on a case of a young female on therapeutic anticoagulation and a history of nephrotic syndrome, who presented with subacute limb ischaemia resulting from axillary artery thrombus. Urgent echocardiogram demonstrated a bicuspid aortic valve with critical stenosis, and she underwent surgical aortic valve replacement. Her presenting symptoms resolved after three months of warfarin...

CONCLUSIONS: The convergence of CML, bullous pemphigoid, and PLA2R-positive MGN in CTLA-4 haploinsufficiency broadens the clinical phenotype and underscores the importance of considering inborn errors of immunity in young adults with refractory, multisystem autoimmunity and hematologic abnormalities. Early genetic diagnosis can guide targeted immunomodulation and organ preservation, and multidisciplinary care is essential for optimal outcomes.

BACKGROUNDAfter identifying 2 immunomarkers of acute injury, KIM-1 and LCN2, in all kidney biopsies from 31 patients with COVID-19 pneumonia and de novo kidney dysfunction, we investigated whether circulating markers of kidney epithelial injury are common in patients with laboratory-confirmed COVID-19 who require oxygen support but do not have critical illness.METHODSWe studied 196 patients admitted to 15 hospitals with moderate to severe pneumonia who were enrolled in 2 independent randomized...

CONCLUSIONS: A genetic cause was established in 19.1% of SRNS patients (15.8% in known SRNS genes and 3.3% in phenocopy genes), but only 1.9% of non-steroid-resistant cases.

CONCLUSION: In children with Nephrotic Syndrome and GC-induced short stature, rhGH treatment results in a significantly greater improvement in growth velocity compared to spontaneous catch-up growth alone. It effectively enhances linear growth and normalizes the GH-IGF-1 axis with a favorable safety profile.

Schimke immunoosseous dysplasia (SIOD) is an uncommon inherited genetic disorder resulting from pathogenic variants in the SMARCAL1 gene. This complex condition exhibits a wide range of clinical features, including skeletal abnormalities, steroid-resistant nephrotic syndrome, and immune system deficiencies. In this study, we report a case series of three patients diagnosed with SIOD, each harbouring copy number variants in the SMARCAL1 gene. The cases expand the current understanding of the...

CONCLUSION: CD163^(+) M2-type macrophages may contribute to CsA-induced interstitial fibrosis. Steroid treatment during CsA treatment appears to augment CsA nephrotoxicity via pro-fibrotic pathways.

The etiology of primary podocytopathies including childhood nephrotic syndrome, minimal change disease, primary focal segmental glomerulosclerosis as well as recurrent focal segmental glomerulosclerosis had long remained elusive. The development of robust anti-nephrin autoantibody detection methods, the identification of these antibodies in idiopathic nephrotic syndrome, and the demonstration of their causal role in podocytopathy have led to a paradigm shift in our understanding of these...

Kidney disease is a major public health challenge, affecting millions of people worldwide. Conventional treatments often produce suboptimal outcomes and are associated with various adverse effects. Traditional Chinese Medicine has shown promising therapeutic potential, offering distinct advantages over conventional therapies for preventing and treating kidney diseases. Salvianolic acids, the principal bioactive constituents of Salvia miltiorrhiza, are widely used in the management of renal...

CONCLUSIONS: Elevated soluble CD25 levels and T cell activation were associated with better CNI response. Soluble CD25 could be a predictive biomarker to identify patients with higher likelihood of response, optimizing therapeutic decisions and avoiding unnecessary treatments in steroid-resistant FSGS.

Nephrotic syndrome (NS) is a disease characterized by heavy protein loss in the urine due to increased permeability of the glomerular membrane, leading to low levels of albumin in the blood. Several studies have shown that primary or secondary kidney disease, congenital infections, diabetes, lupus, cancer, or the use of certain medications can cause it. Therefore, this study aims to present a case of NS in a 9-year-old boy complicated by spontaneous bacterial peritonitis and herpes zoster. The...

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,...

CONCLUSION: Patients with PNS have increased podocyturia compared with healthy individuals. Quantitative detection of podocyturia may have prognostic relevance in patients with PNS.

CONCLUSIONS: In our single-center experience, the incorporation of contrast-enhanced voiding urosonography into follow-up protocols for pediatric vesicoureteral reflux has been demonstrated to be a safe and effective alternative to traditional imaging. By allowing earlier reassessment without radiation exposure, contrast-enhanced voiding urosonography facilitates the safe discontinuation of prophylactic antibiotics, thereby enhancing patient safety and contributing to the reduction of antibiotic...

CONCLUSION: PBS requires lifelong, multidisciplinary care. Early identification of patients at risk for CKD, proactive bladder management, and coordinated reconstructive surgery are critical to optimizing outcomes. These results reinforce the importance of integrating functional and quality-of-life goals into care planning. Future prospective studies are needed to refine surgical timing, preserve renal function, and better characterize long-term quality-of-life outcomes.

Systemic lupus erythematosus is defined as an autoimmune and inflammatory disease that is distinguished by the involvement of diversified multisystem and a persistent course with unpredictable flares. Immune complex-mediated glomerulonephritis is the main presentation of renal involvement and is commonly regarded as lupus nephritis (LN). Although the long-term renal prognosis has been considerably improved, a significant morbidity and mortality is still experienced by children and adolescents...

Children with chronic liver disease are at increased risk of acute kidney injury (AKI), which could be non-hepatorenal syndrome AKI (non-HRS-AKI) or hepatorenal syndrome AKI (HRS-AKI). Approximately 5-10% of these children develop HRS-AKI. In this cohort, portal hypertension leads to splanchnic vasodilatation, reduced mean arterial pressure, and compensatory renal arteriolar vasoconstriction. The reduction of mean arterial pressure and renal vasoconstriction reduces renal perfusion, causing...

CONCLUSIONS: Blood transfusion can be associated with bDSA in paediatric kidney disease, especially with shared blood and kidney donor mismatches. Strategies to avoid sensitisation, such as HLA selection of blood donors, may reduce this risk.

CONCLUSIONS: This study illuminates the profound and multifaceted academic challenges faced by children after kidney transplantation. The results emphasise that a transplant is not merely a medical event but a life-altering experience with significant educational consequences. There is a critical need for integrated, targeted interventions that provide robust psychological support, flexible educational policies and comprehensive school reintegration programmes to ensure these children can...

The inaugural Richard Slayman Clinical Xenotransplantation Workshop convened >140 participants from North America, Europe, and Asia to discuss emerging advances and challenges in translating xenotransplantation from bench to bedside. This report summarized key discussions spanning kidney, heart, and liver xenotransplantation, with an emphasis on clinical readiness and future directions. Core themes included the importance of patient selection, the role of genetic editing to reduce immune...

CONCLUSIONS: This is the first reported PH2 cohort from Pakistan, highlights a significant disease burden with diverse GRHPR mutations, with most patients presenting in advanced CKD stage 5 at diagnosis.

CONCLUSION: This rare case sheds light on malignant renovascular hypertension in a young male, possibly due to IgA deposition in the right renal artery after a previous left nephrectomy. The surgical decision took into consideration the young age of the patient and the eventual characteristics of the renal artery, in addition to the size of the artery; therefore, we preferred and proceeded to an auto kidney transplant rather than aortorenal bypass, believing that the arterial anastomosis, which...

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: This case illustrates the unique "window of opportunity" in early infancy, when low isohemagglutinin levels allow successful ABOi transplantation without the need for extensive desensitization. It further emphasizes that, in the setting of organ shortage, ABOi kidney transplantation can be a safe and effective option for carefully selected pediatric patients and even in infants.

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...

CONCLUSION: Higher BMI is associated with modest differences in early graft dysfunction in pediatric kidney transplantation. Trend analyses demonstrate a graded association between BMI and DGF and SGF, with small absolute differences across BMI categories.

CONCLUSION: This AUC pilot study demonstrated the feasibility of integrating AUC-guided monitoring into the routine management of pediatric kidney transplant recipients.

CONCLUSIONS: Although rare, acute CsA overdose in children can pose serious risks. This case and review underscore the symptoms of overdose and prompt intervention to prevent complications.

Autosomal recessive polycystic kidney disease (ARPKD) is a severe inherited disorder caused primarily by mutations in PKHD1 and in a minority of cases, CYS1. These genes encode fibrocystin and cystin, respectively. ARPKD typically manifests in infancy with enlarged kidneys, progressive cyst formation, and an estimated peri-natal high mortality rate of 20%. Given the lack of efficient therapies and the genetic complexity of many rare diseases such as ARPKD, strategies that restore functional...

This cross-sectional observational study examined the relationship between psychological factors and multimodal emotion recognition abilities in patients with chronic kidney disease (CKD), introducing a humanoid robot as an innovative assessment modality. Sixty adults undergoing dialysis and awaiting renal transplantation (63.3 % male; mean age = 53.95 years, range 20-80) completed three emotion recognition tasks based on Ekman facial expressions, dynamic video clips, and emotional displays...

BK polyomavirus-associated carcinoma of the kidney or bladder following cardiac or pulmonary transplantation has been reported in only 7 individuals, all but 1 being adults. We now report 2 additional pediatric patients, the first having received a lung transplant at the age of 21 months and developing a renal cell carcinoma at 14 years, and the second receiving a heart transplant at 20 months and developing a bladder urothelial carcinoma at 21 years.

[This corrects the article DOI: 10.1016/j.ekir.2025.05.051.].

With the inherent T-cell immunodeficiency of Schimke immune-osseous dysplasia (SIOD), the management of immunosuppressive therapy after transplantation and life-threatening infections remains a challenge. Here, we present a case of a child with SIOD who developed early-onset Epstein-Barr virus (EBV)-associated post-transplant lymphoproliferative disorder (PTLD) after kidney transplantation. PTLD frequently involves the gastrointestinal tract and solid allografts, while this case also involved...

Infection-related glomerulonephritis (IRGN) is the leading cause of acute glomerulonephritis (GN) in children worldwide, particularly in low- and middle-income countries. To provide evidence-based care, the Glomerular Disease Workgroup of the Asian Pediatric Nephrology Association (AsPNA) convened a panel of experts to develop recommendations on diagnosis, evaluation and management of pediatric IRGN. Following a comprehensive literature search, available evidence was graded using the AAP-GRADE...

CONCLUSION: The rise in the health inequality concentration index underscores the importance of enhancing early CKD screening in low SDI areas. Targeted policies, including health education and early CKD screening, should be prioritized.

CONCLUSION: In clinically euvolemic children on dialysis, the combined use of LUS, BIS, and IVC-CI (multiparametric approach) effectively quantified subclinical hypervolemia, which was correlated with the risk of LVH.

Single large-scale mitochondrial DNA deletion syndromes (SLSMDS) are a clinical continuum of three classic discrete clinical syndromes: Pearson marrow-pancreas syndrome, Kearns-Sayre syndrome, and chronic progressive ophthalmoplegia. Kidney manifestations, including chronic kidney disease with progression kidney failure has emerged as significant cause of morbidity and mortality in SLSMDS. Despite this recognition, reports of kidney transplantation in this population are limited. Here, we...

Background/Objectives: The increasing prevalence of overweight and obesity in adolescents represents a major global health concern. Adolescent weight gain frequently shows additional metabolic risk factors, including insulin resistance, hypertension, and dyslipidemia, whose co-occurrence defines the metabolic syndrome (MetS). Adherence to a healthy dietary pattern, such as the Mediterranean Diet (MD), has been shown to reduce the metabolic risk among adolescents. Skin carotenoid score has...

Background and Objectives: Peyronie's disease (PD) is a chronic fibrotic disorder of the tunica albuginea causing penile deformity and sexual dysfunction. Platelet-rich plasma (PRP) has been proposed as a regenerative therapy with potential disease-modifying properties, but evidence of its use in chronic PD is scarce. This study evaluated the efficacy and safety of intralesional PRP injections in men with stable PD. Materials and Methods: A single-center retrospective cohort study was conducted...

CONCLUSIONS: In the largest study of its kind, we observed that the IKA technique did not increase the risk of urologic or vascular complications and yielded comparable one-year graft survival and creatine clearance. This approach appears to be feasible when the AP is not ideal.

CONCLUSIONS: KDPI-based prioritization of kidneys for pediatric allocation was associated with a lower risk of graft failure compared to donor age-based prioritization. Further refining donor risk scores may enable additional improvements in graft survival.

CONCLUSIONS: Among the evaluated biomarkers, KIM-1 demonstrated the strongest potential as an early biochemical indicator of renal allograft dysfunction. Its rapid post-transplant elevation underscores its sensitivity to early tubular injury. Further prospective validation in larger, multicenter cohorts is warranted.

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: A genetic cause was established in 19.1% of SRNS patients (15.8% in known SRNS genes and 3.3% in phenocopy genes), but only 1.9% of non-steroid-resistant cases.

IgA vasculitis (IgAV) is an autoimmune disease that affects the small vessels of the skin, joints, gastrointestinal (GI) tract, and kidneys. In the long term, IgAV associated with nephritis (IgAV-N) can progress to kidney failure. Evidence-based clinical studies of IgAV-N are few, leading to huge variations in treatment approaches and suboptimal outcomes. The wealth of emerging efficacious treatments for IgA nephrology brings new opportunities to this disease. The aim of this report is to...

CONCLUSION: The study highlights significant inequities in pediatric HSCT access and capacity across the Andean subregion. Strengthening infrastructure, workforce training, financing mechanisms, and data systems, supported by sustained regional cooperation, is essential to achieve equitable, high-quality transplant care for all children.

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

Extracellular vesicles (EVs) are lipid-membrane bound vesicles that can be beneficial or detrimental depending on the content they carry. As epithelial cells are the first line of defense against harmful particles, this work explored the role of bronchial epithelial cell-derived EVs (CepEVs) in the pathogenesis and progression of chronic obstructive pulmonary disease (COPD). RNA sequencing of macrophages stimulated with CepEVs revealed the upregulation of various inflammasome-related genes,...

CONCLUSION: eGFR equation accuracy in South Asians is suboptimal, consistently below the accepted clinical P30 threshold of 75%. eGFR(CysC) equations had reduced bias compared with eGFR(Cr) or eGFR(Cr-CysC); however, accuracy was better with eGFR(Cr-CysC). Emerging equations, such as the CKD-EPI-Pakistan variant and European Kidney Function Consortium (EKFC) equations warrant further investigation in diverse South Asian cohorts with population-specific calibration.

CONCLUSION: Primary hyperoxaluria type 1 remains a diagnostic and therapeutic challenge, particularly in resource-limited settings. Identification of specific AGXT variants offers key prognostic and therapeutic insights. Early genetic testing in children with unexplained nephrocalcinosis or recurrent nephrolithiasis may be cost-effective, enabling timely diagnosis, targeted treatment, and family screening while reducing the long-term burden and healthcare costs associated with end-stage renal...

CONCLUSION: This study identified a rare EXD3 variant with a strong effect on DKD risk in T1D. Functional data support a role for EXD3 in podocyte integrity and DKD pathogenesis. However, further functional investigations are necessary to understand the underlying molecular mechanisms.

Acute kidney injury (AKI) is a frequent and severe condition in hospitalized children, leading to significant morbidity, mortality, and long-term risk of chronic kidney disease. This review explores the gut-kidney axis, a concept describing the bidirectional relationship between the gut microbiome and kidney function, as a critical driver of pediatric AKI. In critically ill children, interventions such as broad-spectrum antibiotics and necessary nutritional support strategies (e.g., parenteral...

Vesicoureteral reflux (VUR) in a renal allograft ureter is a well-recognized and clinically significant complication that may lead to recurrent febrile urinary tract infection (fUTI) and progressive allograft dysfunction. While open ureteral reimplantation remains a standard surgical option, it is relatively invasive for kidney transplant recipients. Endoscopic subureteral injection of a bulking agent such as Deflux has been widely used for primary VUR in children, but reports in renal...

CONCLUSIONS: This systematic review synthesizes qualitative evidence regarding the daily life experiences of children and their families after initiating KRT, contributing to the development of a self-care program that enhances their quality of life.

Fabry disease (FD) is a rare lysosomal storage disorder caused by mutations in the GLA gene, resulting in globotriaosylceramide accumulation. Kidney involvement (Fabry nephropathy) significantly contributes to morbidity and mortality. Diagnosis can be difficult, especially in females or late-onset variants. Renal biopsy remains essential, but interpretation requires expert pathologists. Digital pathology and artificial intelligence (AI) offer promising solutions to support diagnosis. The study...

Living donor liver transplantation (LDLT) is an established therapy with curative intent for pediatric and adult patients with acute liver failure and end-stage liver disease. Donor safety remains paramount and commences during preoperative evaluation and assessment. Given the importance of the topic, the International Liver Transplantation Society and International Living Donor Liver Transplantation Group consensus conference on Living Liver Donor Safety was convened in March 2025 (Toronto,...

Multiple myeloma (MM) remains incurable despite advances in treatment options. Although tumor subtypes and specific DNA abnormalities are linked to worse prognosis, the impact of immune dysfunction on disease emergence and/or treatment sensitivity remains unclear. We developed an Immune Atlas of MM by generating profiles of 1,397,272 single cells from the bone marrow (BM) of 337 newly diagnosed participants and characterized immune and hematopoietic cell populations. Cytogenetic risk-based...

CONCLUSIONS: Despite the invasiveness of fetal sampling and the need for specialized expertise, biochemical markers provide crucial insights for prenatal counseling and individualized management in CAKUT. Future research should focus on non-invasive alternatives, such as amniotic fluid proteomics and urinary biomarkers, to refine risk assessment and improve neonatal outcomes. Standardizing protocols and integrating biochemical testing into routine prenatal care could significantly enhance the...

CONCLUSION: The suboptimal adherence to current VA recommendations and wide variability in catheter care practices including the prevention, diagnosis, and management of CRBSI highlight the need for standardized pediatric-specific protocols to enhance catheter longevity and improve patient outcomes.

Genetic disorders in neonates often present with overlapping clinical features, posing significant diagnostic challenges. Glycogen storage diseases (GSD) disrupt glycogen metabolism, leading to energy deficits. Pathogenic variants in the Wilms tumor 1 (WT1) gene represent a rare but significant cause of early-onset steroid-resistant nephrotic syndrome (SRNS), associated with a broad range of both kidney and extrakidney phenotypic manifestations. The coexistence of these genetic diseases in a...

Until 2009, atypical hemolytic uremic syndrome (aHUS), a disease mediated by complement-induced endothelial activation, had a poor renal prognosis, with common progression to kidney failure and frequent recurrence after kidney transplantation, condemning often young patients to lifelong dialysis. Initially developed for paroxysmal nocturnal hemoglobinuria, anti-C5 monoclonal antibodies – eculizumab and later ravulizumab – were rapidly evaluated for the management of atypical HUS. Clinical...

The number of children requiring renal transplants is on the rise, increasing the need for the availability of donor kidneys. It is a challenge to match the need and the available pool. Hence, a renal transplant recipient undergoes rigorous scrutiny to ensure the best possible outcome. In this context, children with obesity harm the long-term outcome when they receive renal transplantation due to higher and more severe postoperative complications. In addition, reports indicate that renal graft...

Paediatric kidney tumours are generally associated with a favourable survival rate. Most children are diagnosed with Wilms tumour, which has a 90% long-term survival rate with conventional front-line and salvage therapies. However, treatments and outcomes of children with relapsed non-Wilms tumours, such as malignant rhabdoid tumour of the kidney, renal-cell carcinoma (including renal medullary carcinoma), clear-cell sarcoma of the kidney, anaplastic sarcoma of the kidney and congenital...

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...

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

CONCLUSIONS: We confirm that changes better known in adults with either type 1 or type 2 diabetes mellitus can occur in children with type 1 diabetes mellitus: overt diabetic nephropathy either on its own or combined with other conditions and kidney disorders other than diabetic nephropathy.

No abstract

CONCLUSIONS: Most scored pathology features showed excellent reproducibility, demonstrating consistency for these features across multiple pathologists. Correlations between certain pathologic features and expected clinical characteristics show the value of this approach for future studies on clinicopathologic correlations and biomarker discovery.

CONCLUSION: Pegcetacoplan may provide therapeutic benefit for C3G and has a favorable safety profile across the 4 glomerular diseases studied.

Kidney function is strongly influenced by genetic factors with both monogenic and polygenic factors contributing to kidney function. Monogenic disorders with primarily autosomal dominant inheritance patterns account for 10% of adult and 50% of paediatric kidney diseases. However, kidney function is also a complex trait with polygenic architecture, where genetic factors interact with environment and lifestyle factors. Family studies suggest that kidney function has significant heritability at...

CONCLUSION: The Edema ClinRO (V1) measure is developed specifically to measure edema in nephrotic syndrome. The tool assesses edema across multiple body parts, and it includes a training module to ensure standardized administration across raters. Future examination of this measure is ongoing to establish its reliability and validity.

No abstract

CONCLUSIONS: Among patients with primary GN, COVID-19 infection was severe for 1 in 8 cases and was associated with subsequent worsening of GN disease activity, as defined by proteinuria. By contrast, vaccination against COVID-19 was not associated with change in disease activity or kidney function decline. These results support COVID-19 vaccination for patients with GN.

BACKGROUND: Membranous nephropathy is a glomerular disease characterized by the presence of immune-complexes deposited in the subepithelial space of the glomerular basement membrane. It is the main cause of nephrotic syndrome in adults, while in children it is very infrequent. Anti-CD20 monoclonal antibodies, mainly rituximab, represent a specific treatment for this disease.

CONCLUSION: The KB is an essential step in the diagnosis of nephropathies. Focal segmental glomerulosclerosis is frequent in our study. The establishment of a Kidney registry would allow better knowledge of renal pathologies in sub-Saharan Africa.

CONCLUSIONS: On cBSA-induced injury, podocytes upregulate DAF expression, which restrains complement activation. However, after prolonged injury, complement activation overcomes DAF regulatory effects leading to the formation of soluble anaphylatoxin C3a that, by signaling through C3aR, promotes glomerular injury and cBSA-induced MN disease progression. Considering the growing number of complement targeting therapies, our findings may have major translational effect on the treatment of patients...

CONCLUSIONS: The development of GD after vaccination against SARS-CoV-2 may be a very rare adverse event. Temporal association is present for IgAN and MCD, but causality is not firmly established. Kidney outcomes for IgAN and MCD are favorable. No changes in vaccination risk-benefit assessment are recommended based on these findings.

Glomerular diseases account for a significant proportion of chronic kidney disease in low-income and middle-income countries (LMICs). The epidemiology of glomerulonephritis is characterized inadequately in LMICs, largely owing to unavailable nephropathology services or uncertainty of the safety of the kidney biopsy procedure. In contrast to high-income countries where IgA nephropathy is the dominant primary glomerular disease, focal segmental glomerulosclerosis is common in large populations...

The course of juvenile-onset systemic lupus erythematosus may vary, from rapid multiorgan involvement to insidious development mimicking different medical conditions. Depressive disorder in adolescents poses considerable diagnostic difficulties due to the natural tendency to lowered mood in this age group. However, it may also be the manifestation of a systemic disease. We present a case of a 16-year-old female patient without any somatic symptoms in whom severe depression resistant to treatment...

Systemic lupus erythematosus is defined as an autoimmune and inflammatory disease that is distinguished by the involvement of diversified multisystem and a persistent course with unpredictable flares. Immune complex-mediated glomerulonephritis is the main presentation of renal involvement and is commonly regarded as lupus nephritis (LN). Although the long-term renal prognosis has been considerably improved, a significant morbidity and mortality is still experienced by children and adolescents...

INTRODUCTION: Systemic lupus erythematosus (SLE) is a chronic autoimmune disease affecting multiple organs. Some patients still develop severe refractory SLE despite conventional treatments. Belimumab, a biologic targeting B lymphocyte stimulator (BLyS), shows therapeutic promise in SLE, but its effects on pediatric patients remain unclear.

Systemic lupus erythematosus (SLE) is a rare autoimmune disorder, rarely presenting with central nervous system (CNS) hemorrhage-especially cerebellar involvement. We report a previously healthy 17-year-old female presenting with severe thrombocytopenia and cerebellar hemorrhage, leading to a diagnosis of SLE. Recovery was dramatic and achieved by prompt multidisciplinary management, including neurosurgical intervention, immunosuppressive treatment, and intensive care. The case highlights the...

CONCLUSION: DNT levels were positively correlated with disease activity in cSLE patients, and the effect of glucocorticoid dose on DNT levels varied. Key Points • DNT cells are significantly elevated in cSLE patients and correlate with disease activity, organ involvement, and autoantibody profiles. Low-dose glucocorticoids transiently increase circulating DNT levels, while higher doses progressively reduce DNT frequencies. DNT levels positively correlate with B-cell subsets, suggesting a...

BACKGROUND AND OBJECTIVES: Compelling evidence documents an association between autoimmune diseases and several types of cardiovascular diseases. Knowledge on whether autoimmune diseases may increase the risk of subarachnoid hemorrhage (SAH), a rare but severe type of cerebrovascular event, is very limited. The aim of this study was to determine the association between autoimmune diseases and SAH.

BackgroundNeuropsychiatric systemic lupus erythematosus (NP-SLE) in children is uncommon but often severe, with a wide spectrum of neurologic presentations and sometimes atypical or initially normal neuroimaging. Among reported manifestations, acute cerebellitis is rare, and simultaneous thalamic involvement has scarcely been described. Differentiating inflammatory NP-SLE from mimics such as posterior reversible encephalopathy syndrome (PRES), infection, or ischemia is essential, since...

CONCLUSION: EBV infection is independently associated with an increased risk of MAS in cSLE patients and is linked to more pronounced complement consumption and specific clinical manifestations such as neurological symptoms and serositis. This study underscores the importance of EBV screening in cSLE patients for the early vigilance and management of MAS.

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Systemic lupus erythematosus (SLE or lupus), an autoimmune disease characterized by autoantibody production and inflammation, exhibits clinicopathologic heterogeneity. Here we investigated the heterogeneity and functions of mononuclear phagocytes (MPs), including monocytes (Mo) and macrophages (MΦ), driven by lupus immune complex (IC) stimulation. Our single cell RNA sequencing (scRNA-seq) analysis of human Mo incubated with U1-snRNP lupus IC revealed an expansion of pro-inflammatory Mo with...

Chimeric antigen receptor (CAR) T cell therapy was recently proposed as a treatment for adults with B-cell-mediated autoimmune diseases (ADs) refractory to conventional immunomodulatory therapy. We present a case series of eight children with severe/refractory AD (four systemic lupus erythematosus, three dermatomyositis, one systemic sclerosis) treated at Ospedale Pediatrico Bambino Gesù, Rome, and University Hospital Erlangen with a single infusion of 1 × 10⁶ kg^(-1) point-of-care manufactured...

CONCLUSION: Flow cytometry analysis of CD169 and CD274 is an effective method to rapidly quantify IFN-I and IFN-γ activity in the clinical setting.

Antibody-secreting cells (ASCs) play a central role in the pathophysiology of systemic lupus erythematosus (SLE). This single-arm, open-label, phase 2 clinical trial aims to evaluate the safety and efficacy of the ASC-depleting anti-CD38 monoclonal antibody daratumumab in patients with SLE (NCT04810754). The primary endpoint is the reduction in serum anti-double-stranded DNA (anti-dsDNA) antibody levels at week 12. Key secondary end points include safety, clinical efficacy, and immunologic...

CONCLUSION: We find that IL-36 promotes monocyte apoptosis while downregulating self-nucleic acid clearance. Thus, IL-36 contributes to the accumulation of self-nucleic acids, a key driver of type I IFN responses in SLE.

CONCLUSION: CD8+ HLA-DRB1+ T cells represent a cytotoxic yet dysfunctional effector memory population expanded in SLE. Type I IFN drives this paradoxical state by promoting exhaustion and impaired degranulation, highlighting a potential therapeutic axis in SLE.

CONCLUSIONS: 3D-STI technology may assist with the detection of otherwise imperceptible changes in cardiac function and the STIS score is a useful prognostic marker for cSLE patients.

Chimeric antigen receptor (CAR) T cell therapy has been highly effective in eradicating malignant B cells in cancer, and this success has prompted an extension of the approach to areas beyond oncology. In pioneering studies, CAR T cells targeting the B cell marker CD19 demonstrated robust efficacy as treatment for the autoimmune disease systemic lupus erythematosus. Patients who received anti-CD19 CAR T cells experienced remission of most or all clinical manifestations and discontinued prior...

CONCLUSION: Rhupus syndrome is just as significant in children as it is in adults, where it is more commonly reported. Early recognition and adequate therapy are essential for improved clinical outcomes as juvenile rhupus often shows severe systemic involvement and increased morbidity compared to isolated JIA or SLE. Our case contributes to the limited literature on juvenile rhupus and highlights the need for clear diagnostic criteria and management guidelines.

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CONCLUSION: This report, based on over 20 years of surveillance of anti-Ro positive pregnancies, identifies associations between maternal disease, their treatments and foetal AV conduction. Routine detection assays for anti-Ro/La antibodies had low performance in predicting AVB among an anti-Ro/La positive population.

Thiopurine drugs are the cornerstone treatment for many diseases such as acute lymphoblastic leukemia (ALL), organ rejection, inflammatory bowel disease (IBD), systemic lupus erythematosus (SLE), rheumatoid arthritis (RA) and other autoimmune diseases. However, their clinical use faces limitations due to the drug-induced adverse effects, including myelosuppression. Several genetic associations have been evaluated for their association with these adverse drug reactions. TPMT and NUDT15...

Cardiac MRI confirmed ventricular dysfunction identified by echocardiography and additionally detected myocardial oedema and fibrosis in some paediatric patients with systemic lupus erythematosus, systemic scleroderma, and mixed connective tissue disease. These findings were followed by changes in immunotherapy in 3 of 11 patients, supporting the added diagnostic and clinical value of cardiac MRI in managing paediatric patients with rheumatologic disorders.

CONCLUSION: Bicistronic-CD19/22 CAR-T therapy has induced sustained remission in pediatric patients with refractory LN. Although the treatment triggered severe complications-HLH/TMA. These complications were manageable with aggressive supportive therapy, underscoring the importance of meticulous patient screening before CAR-T administration. This therapy offers a promising treatment strategy for refractory LN.

Autoimmune diseases are becoming increasingly prevalent and can cause multi-organ damage through dysregulated immune responses to self-antigens. This review aims to summarize the roles of annexin family proteins and annexin autoantibodies in the mechanisms of autoimmune diseases, as well as their potential diagnostic and therapeutic applications. A targeted PubMed search conducted on August 31, 2025, utilized annexin- and disease-related terms without year restrictions, focusing on...

CONCLUSION: This study identified metabolic biomarkers with strong diagnostic potential for differentiating jSLE, jIA, and healthy controls using NMR-based metabolomics. These findings offer promising tools for early differential diagnosis and lay the groundwork for future translational research in pediatric autoimmune diseases.

CONCLUSIONS: Multilevel IFN profiling revealed an important biomarker of IFN-high patients for potential use in clinical practice, immune lineage-specific responses, and clinically meaningful endotypes, supporting systems immunology approaches and biomarker-guided personalised treatment strategies.

PurposeTo describe ocular findings, including dry eye disease (DED) and evaluation of hydroxychloroquine (HCQ) retinal toxicity, in Juvenile Systemic Lupus Erythematosus (JSLE) patients followed in a Brazilian referral tertiary-care center.MethodsThis cross-sectional study included 46 JSLE patients under 18 years of age, consecutively recruited between 2020 and 2023, from two university centers. Ophthalmological evaluations included best-corrected visual acuity, tear film break-up time (BUT),...

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CONCLUSIONS: Homozygous SAMHD1 deficiency demonstrates striking phenotypic heterogeneity in childhood, extending beyond classical AGS. SAMHD1 mutations should be considered in children with unexplained systemic inflammation, even in the absence of typical neuroimaging findings. Clinical responses to JAK inhibition across diverse phenotypes support a shared interferon-driven pathogenesis and highlight the value of early genetic diagnosis to guide targeted therapy.

Chimeric antigen receptor (CAR)-T cells are considered a powerful therapeutic tool to reset the immune system in patients with autoimmune diseases. Innovative trial designs are needed to allow feasible testing of the safety and efficacy of CAR-T cells in clinical studies. CASTLE (CAR-T cells in systemic B cell mediated autoimmune disease) is a phase 1/2a two-stage optimal design basket study that investigated the safety and efficacy of zorpocabtagene autoleucel (Zorpo-cel, also known as...

As integral components of the immune response, the activating receptor NKG2D and its ligands, the UL16 binding protein family ( ULBPs ), play a pivotal role in autoimmune pathology. However, their specific functions exhibit multidimensional regulatory features. This review proposes a three-dimensional regulatory framework of "ligand supply, ligand fate, and receptor modulation" to dissect the role of this pathway in different diseases. The diversity of "ligand supply" governs the initiation of...

CONCLUSIONS: NVC is a valuable tool for differentiating pRP from early juvenile CTDs and may help risk stratification for organ involvement, particularly ILD.

Myxedema is increasingly rare in the United Kingdom, particularly among patients already on treatment. We present a case of a 13-year-old girl diagnosed with autoimmune hypothyroidism who was started on 75 µg of levothyroxine by her general practitioner. She was referred to the endocrine clinic after 6 months of treatment for hypothyroidism with 2 months of worsening fatigue, chest pain, peripheral edema, and dyspnea. On hospitalization, the patient's laboratory tests revealed undetectable free...

CONCLUSION: Preterm infants exposed to maternal SLE frequently developed thrombocytopenia, but most cases were self-limited. Key risk modulators included gestational age, maternal HDP, and hydroxychloroquine use. Furthermore, thrombocytopenia was significantly associated with neonatal morbidity.

CONCLUSIONS: The probability of allergic diseases is positively related to the titers of anti-SSA in SLE mothers. SLE offspring have high proportions of childhood-onset SLE and allergic diseases. Key Points • The maternal disease of systemic lupus erythematosus (SLE) might affect the long-term health of their offspring, but there is little research data on their long-term complications in China. • Our hospital tried earlier to manage pregnant women with SLE in mainland China, with the earliest...

Cutaneous lupus erythematosus (CLE) may occur independently or in association with systemic lupus erythematosus (SLE). When systemic disease is present, CLE is the first manifestation in nearly one-third of cases. This positions dermatologists as key stakeholders in early detection of systemic disease, underscoring the importance of appropriate screening among this population. Various CLE subtypes carry distinct risks of systemic progression, with acute CLE closely tied to active SLE, subacute...

CONCLUSION: Scientific output on PTB and SLE has steadily increased over the past 20 years. India, China, and Brazil lead the field, with international cooperation playing an emerging but significant role. The main publication venues are journals ranked in Q2 and Q3.

Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare cytotoxic T-cell lymphoma of subcutaneous adipose tissue. It is exceptionally uncommon in children, with fewer than 100 cases reported worldwide and very few under five years. Clinically, it may mimic cellulitis, panniculitis, or lupus erythematosus profundus, leading to diagnostic delay. Diagnosis relies on clinicopathological correlation, as histological features overlap with reactive and autoimmune panniculitides, and...

患儿，女，9岁3月龄，因“双手指间关节疼痛1个月余，双下肢肿胀1周”于2024年2月就诊于深圳市儿童医院风湿免疫科，伴发热、蝶形红斑、尿少，辅助检查提示白蛋白、补体C3、补体C4、白细胞、血红蛋白下降，尿素氮、肌酐升高，血尿、蛋白尿阳性，抗核抗体、抗双链DNA抗体、抗SSA抗体等多项自身抗体阳性，肾脏病理提示弥漫球性增生性狼疮性肾炎Ⅳ-G（A）型。诊断系统性红斑狼疮及狼疮性肾炎，予足量醋酸泼尼松联合吗替麦考酚酯、羟氯喹治疗，2周后患儿关节疼痛好转，发热、浮肿、皮疹消失。出院后二次全外显子基因检测回报显示TNFAIP3基因c.259C>T自发变异导致第87号氨基酸由精氨酸变为终止子，增加病因诊断A20单倍剂量不足。随访6个月，患儿无明显疾病活动。.

CONCLUSION: This remotely delivered cognitive behavioral intervention tailored to youth with lupus was feasible and associated with reduced depressive and fatigue symptoms compared with medical treatment as usual. Further increasing accessibility by implementing TEACH in medical settings may improve uptake and patient outcomes.

CONCLUSION: Standardized monitoring of renal dysfunction (proteinuria, BUN), strict control of disease activity, and protocolized thromboprophylaxis (LDA/LMWH) should be prioritized to mitigate APOs risks in SLE pregnancies. Key Points • Urinary protein positivity is a pan-predictor of adverse pregnancy outcomes (APOs); multivariate analyses show proteinuria ≥ 1 + correlates with higher risks of preterm birth and cesarean delivery. • Elevated blood urea nitrogen (BUN) universally predicts low...

CONCLUSION: There are no universally recognised standards on pulmonary screening in juvenile connective tissue diseases leading to inconsistency across centres and between practitioners. However, adoption of the proposed standards would likely improve recognition, monitoring and management of pulmonary manifestations, standardise practice and inform and improve future guidance and research.

Neutrophils contribute to systemic lupus erythematosus (SLE) pathogenesis through reactive oxygen species and neutrophil extracellular trap (NET) production, and increased apoptotic debris which causes autoantibody production and immune complex formation. These processes drive inflammation and tissue damage. The aim of this study was to perform integrated transcriptomic and metabolomic analyses comparing paediatric and adult SLE neutrophils. Adult (aSLE) and paediatric (jSLE) patient and healthy...

CONCLUSION: Our study did not validate the differentially abundant proteins as markers for SLE-SGA but suggested a link between the antiangiogenic and proangiogenic proteins, endostatin and angiogenin, respectively, and pre-eclampsia in SLE. Given the consistent elevation of endostatin throughout pregnancy in SLE compared with controls, its potential effects on placental development in SLE warrant further investigation.

CONCLUSION: The SLR showed that data on the use of belimumab in rheumatic conditions, other than SLE, are still scarce. However, belimumab may have therapeutic potential in specific subsets of patients with rheumatic diseases characterized by aberrant B cell activation. Future research should focus on large, randomized phase 3 trials with extended follow-up to better define the role of belimumab in rheumatic diseases beyond SLE, particularly in combination with standard-of-care therapies.

Timely diagnosis of type 1 diabetes (T1D), especially in high-risk populations, is crucial for preventing serious health complications. T1D is a chronic progressive autoimmune disease that has presymptomatic stages that can be identified through the detection of islet autoantibodies. Given that T1D is associated with other autoimmune diseases, having either those diseases or a family history of them will represent a risk of T1D. From a search of the literature conducted in August 2024, we review...

Here, we report a female (aged 1 year and 8 months) who presented with recurrent skin lesions, hepatosplenomegaly, lymphadenopathy, and fever. She was diagnosed initially with systemic lupus erythematosus and lupus nephritis with mild anemia, thrombocytopenia, hypocomplementemia, massive proteinuria, and hematuria. Antinuclear antibodies and a Coombs test were positive. Leukocytosis and monocytosis in peripheral blood, and hypergammaglobulinemia were also noted, which are consistent with the...

CONCLUSIONS: Thrombocytopenia impacts nearly a quarter of lupus patients and is strongly associated with organ involvement and increased mortality risk, irrespective of gender or age. These findings underscore the necessity for additional research and specialized guidelines to enhance outcomes in this high-risk group.

Background: Kaposiform hemangioendothelioma (KHE) is a rare, locally aggressive vascular tumor that shares histological features with Kaposi's sarcoma. It usually occurs in infancy or early childhood and is seldom reported in adults. The most common sites are the skin and retroperitoneum, whereas the head, neck, and mediastinum are less frequently involved. KHE rarely regresses spontaneously, and metastasis is uncommon, but up to 70% of cases may develop Kasabach-Merritt Syndrome (KMS), a...

CONCLUSION: There is limited literature describing pneumococcal vaccine immunogenicity in patients with glomerular disease. Metrics of reporting seroprotection and seroconversion to pneumococcal vaccines would benefit from standardization. Healthcare claims for pneumococcal vaccines following a diagnosis of glomerular disease suggest that efforts to improve timely vaccination are needed.

Introduction: This study evaluates the real-world application of anifrolumab in managing articular involvement in systemic lupus erythematosus (SLE), providing insights into its efficacy and safety in routine clinical practice. Additionally, a systematic review examines anifrolumab's role specifically in joint manifestations of SLE, consolidating existing real-world data on its therapeutic impact in articular disease. Methods: This monocentric case series presents data from four patients with...

CONCLUSION: Our clinical report is of significance as it illustrates a possible genotype-phenotype correlation between a specific TSC2 pathogenic variant and a severe renal phenotype. Our case series highlights the importance of establishing genotype-phenotype interactions to provide anticipatory guidance using prognostic data and clinical management.

CONCLUSION: CLIC4 is a key component of the sperm cell volume regulation machinery, modulating Cl fluxes during maturation. These findings provide new insights into the molecular basis of sperm osmoregulation and may inform therapeutic strategies for male infertility.

Among the genes involved in ADKPD, HNF1B encodes a transcription factor implicated in kidneys morphogenesis. Here, we present the case of a little girl with multiple renal cysts diagnosed in utero; at 4 years the genetic testing by NGS revealed the rare pathogenic variant c.1462C > T in the HNF1 gene; additionally, overweight and precocious puberty with appearance of pubic hair were suspected. At 7 years, she was obese with right breast bud, adipomastia and accelerated growth. Our experience...

PURPOSE OF REVIEW: The aim of this review is to describe the substantial advances that have been made in the past 2 years on new treatment options in eosinophilic granulomatosis with polyangiitis (EGPA).

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INTRODUCTION: It is well accepted that young individuals on dialysis have poor clinical outcomes, although it is increasing apparent that they have similarly poor patient-centred ones. We study these latter outcomes in the population of youths undergoing dialysis in Aotearoa New Zealand (AoNZ). This study aims to report their sociodemographic and clinical characteristics, and explore their mental well-being and health-related quality of life, and how these outcomes are influenced by factors such...

BACKGROUND: Interstitial cystitis/bladder pain syndrome (IC/BPS) is a poorly understood and underdiagnosed syndrome of chronic bladder/pelvic pain with urinary frequency and urgency. Conflicting data exist regarding associated phenotypes, and little is known of its genetic aetiology.

Cardiac troponin I (cTnI) is the gold-standard biomarker for acute myocardial infarction, yet current laboratory-based high-sensitivity assays require centralized infrastructure, trained personnel, and serial testing, limiting their suitability for real-time or continuous monitoring in resource-limited settings. Point-of-care electrochemical sensors have shown promise for rapid cTnI detection, but their reliance on antibodies as biorecognition elements and redox mediator solutions, and...

Renin regulates blood pressure and fluid-electrolyte homeostasis via the renin-angiotensin-aldosterone system (RAAS), and renin cells function as renal baroreceptors that couple perfusion pressure to renin output. Krüppel-like factor 2 (Klf2), a canonical flow-responsive transcription factor, repeatedly emerged from our multi-omics profiling linked to renin cell identity, but its role in renin cells remained unknown. We generated mice with renin-lineage-specific Klf2 deletion (Klf2cKO:...

Children with chronic liver disease are at increased risk of acute kidney injury (AKI), which could be non-hepatorenal syndrome AKI (non-HRS-AKI) or hepatorenal syndrome AKI (HRS-AKI). Approximately 5-10% of these children develop HRS-AKI. In this cohort, portal hypertension leads to splanchnic vasodilatation, reduced mean arterial pressure, and compensatory renal arteriolar vasoconstriction. The reduction of mean arterial pressure and renal vasoconstriction reduces renal perfusion, causing...

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CONCLUSIONS AND RELEVANCE: These findings support pregnancy as an opportunistic window for sex-specific cardiovascular risk assessment and prevention throughout a woman's life course. Further studies are warranted to validate these findings.

CONCLUSION: The TURPAID score did not effectively predict colchicine resistance in the JIR cohort. Its limited generalisability may stem from age-related differences, recall bias and excessive genetic weighting. Genetic results should be a prerequisite and not a determinant of colchicine resistance prediction scores in FMF.

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Bone turnover abnormalities are common in chronic kidney disease (CKD) and contribute to bone fragility. Recently, the Kidney-Disease: Improving Global Outcomes (KDIGO) introduced the term CKD-associated osteoporosis to describe bone fragility in CKD and highlighted the role of bone turnover markers (BTM) in clinical evaluation and management of bone fragility. However, current clinical practice guidelines lack specific treatment targets for bone turnover. The aim of this consensus was to...

CONCLUSIONS: This is the first reported PH2 cohort from Pakistan, highlights a significant disease burden with diverse GRHPR mutations, with most patients presenting in advanced CKD stage 5 at diagnosis.

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CONCLUSIONS: PORD is associated with an increased prevalence of hypertension, microvascular capillary abnormalities, and elevated TXB₂, consistent with enhanced cyclooxygenase-mediated vasoconstrictor tone and endothelial dysfunction. These findings suggest that cyclooxygenase-dependent mechanisms may contribute to the vascular alterations observed in PORD.

Amyloid deposition is an increasingly recognized contributor to chronic kidney disease and end-stage renal disease. It can result from various underlying conditions, including monoclonal gammopathies and chronic inflammatory states. Diagnosis is typically established by kidney biopsy demonstrating characteristic amyloid deposits. ALECT2 (leukocyte chemotactic factor 2) amyloidosis can present as nephrotic-range proteinuria. ALECT2 amyloidosis is an uncommon and under-recognized.

IntroductionThis study evaluated the usability and patient experience of the Vivatum Alba Continuous Ambulatory Peritoneal Dialysis (CAPD)-System™, an integrated Bluetooth-enabled platform designed to enhance peritoneal dialysis (PD) delivery. Objectives included assessment of patient satisfaction, procedural competence, data accuracy, and reliability of transmission to the remote patient care (RPC™) platform. Such technology may help strengthen the safety and consistency of CAPD delivery,...

CONCLUSION: The missense variants c.1337G > A (p.Arg446Gln) and c.1396G > C (p.Ala466Pro) in exon 10 of ABCG5 likely represent the molecular genetic basis of STSL in this family.

Breastfeeding has recognized health benefits for all mother-infant dyads, which are particularly important for women with chronic kidney disease (CKD) and their children. There is growing evidence to suggest breastfeeding positively impacts maternal vascular health by lowering blood pressure, assisting with weight loss, improving lipid profiles and preventing type 2 diabetes. Similarly, breastfed infants have demonstrated decreased risks of developing obesity, hypertension and diabetes,...

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...

Acute kidney injury (AKI) affects thousands of hospitalized patients annually, yet early detection remains challenging as serum creatinine elevation lags behind clinical deterioration. Decreased urine output (UO) represents a key diagnostic criterion of AKI, sometimes manifesting hours before biochemical changes; however, current manual monitoring methods are labor-intensive and prone to error. Here, we developed and validated a simple, cost-effective automated urine flow meter using non-contact...

Objectives: Respiratory syncytial virus (RSV) is a leading cause of hospitalization for acute lower respiratory tract infections (ALRIs) in children, with bacterial coinfection complicating diagnosis and often driving antibiotic overuse. This study aimed to develop and validate a clinical prediction model using common laboratory biomarkers to enable early, accurate identification of clinically significant bacterial coinfection in children with RSV infection. Methods: A single-center,...

Despite years of experience from scientific teams around the world, diagnosing the cause of monogenic diabetes (MD) remains a challenge, mainly due to the proper definition of the patients' phenotype and the multitude of molecular causes. Our goal was to present the results of the efforts to make the molecular diagnosis of patients with suspected MD as precise as possible from the last few years of our Rare Disease Center for Children and Adolescents and Diabetogenetics using the NGS (Next...

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CONCLUSION: This case illustrates the unique "window of opportunity" in early infancy, when low isohemagglutinin levels allow successful ABOi transplantation without the need for extensive desensitization. It further emphasizes that, in the setting of organ shortage, ABOi kidney transplantation can be a safe and effective option for carefully selected pediatric patients and even in infants.

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CONCLUSIONS: High-grade scarring is a significant independent risk factor for hypertension. Although cystatin C reflects the severity of kidney damage, its association with hypertension depends on the scar burden. Since circadian rhythm disturbances (non-dipping) are common, even in children with normal office blood pressure, ABPM may be necessary for monitoring those with KS.

Obesity, type 2 diabetes (T2D), cardiovascular disease (CVD), and chronic kidney disease (CKD) are overlapping conditions that drive premature morbidity and mortality worldwide. Care remains siloed and reactive despite shared risk factors and strong evidence for early intervention. To support integrated disease management, the American Heart Association (AHA) recently introduced the concept of cardiovascular-kidney-metabolic (CKM) syndrome, recognizing the bidirectional links between metabolic,...

CONCLUSIONS: Our review will provide a comprehensive synthesis of the available evidence on kidney donor risk factors impacting graft survival in pediatric KT. The results of this review could provide valuable insights for clinical decisions, policy development, and ongoing efforts to improve outcomes for children with end-stage kidney disease requiring KT.

Patients suffering from distal renal tubular acidosis (dRTA) are sometimes diagnosed with proximal tubule dysfunction with leaks of phosphate, uric acid, amino acids, and low-molecular weight proteins, a condition also known as Fanconi-like syndrome. The underlying molecular basis is largely elusive. We previously reported on ATPase H^(+) transporting V0 subunit a4 (Atp6v0a4) knockout (KO) mice, which exhibit severe metabolic acidosis in combination with proximal tubule dysfunction as evidenced...

CONCLUSION: DEFINE highlights the wide-ranging burdens of FSGS and IgAN on patients and care providers. Findings underscore the need for holistic, patient-centered care that recognizes lived experience and provides consistent lifestyle guidance and emotional support. Greater collaboration among HCPs, industry, and patient organizations is essential to improve self-management and quality of life.

CONCLUSION: MSC therapy shows promising potential for pediatric kidney disorders, with preliminary evidence supporting safety and efficacy. Challenges remain in optimizing cell sources, standardizing protocols, and establishing long-term safety. Future research should focus on biomarker identification, pediatric-specific models, and protocol standardization.

An underlying medical condition as a cause for elevated blood pressure is suspected when hypertension occurs in younger children or those with markedly high readings (hypertensive urgency or emergency). We highlight a unique presentation and underlying medical condition, polycythemia vera (PV), as the cause of secondary hypertension in an asymptomatic 5-year-old child presenting for a routine physical examination and found to have hypertensive urgency. Laboratory evaluations revealed...

CONCLUSIONS: Neonatal AKI perceptions and practices continue to vary across subspecialities, though improvements in access to serum creatinine monitoring and nephrology consultation are noted. Standardized approaches for AKI detection, management, and follow-up remain lacking indicating opportunities to improve care through provider education and guideline development.

CONCLUSION: This review identifies several metabolites consistently associated with specific dietary components across different studies in children and adolescents. These findings support the potential of metabolomics for validating dietary biomarkers and improving the accuracy of dietary assessment in pediatric populations. Although metabolomic markers reflect actual dietary intake, their implications for health outcomes remain to be explored.

CONCLUSIONS: In infants and toddlers evaluated for suspected urinary stone disease, the Ca/Cit ratio offers moderate discriminatory power and may serve as a practical adjunctive marker of stone risk. A ratio > 0.23 mg/mg (≈ 1.10 mmol/mmol) appears to indicate increased lithogenic potential. Larger prospective studies are needed to validate reference intervals and refine clinically applicable cut-off values for this young age group.

CONCLUSION: EBV infection is independently associated with an increased risk of MAS in cSLE patients and is linked to more pronounced complement consumption and specific clinical manifestations such as neurological symptoms and serositis. This study underscores the importance of EBV screening in cSLE patients for the early vigilance and management of MAS.

Background Youth with type 2 diabetes (T2D) and severe obesity face high risk of diabetic kidney disease, which metabolic bariatric surgery (MBS) can mitigate. This study explores structural and molecular changes in kidneys after vertical sleeve gastrectomy (VSG), a form of MBS. Methods Paired analyses, including metabolic profiling, kidney volume assessment, histological evaluation, and single-cell RNA sequencing (scRNAseq) on kidney biopsies from five youth with T2D and obesity pre- and 12...

CONCLUSION: This AUC pilot study demonstrated the feasibility of integrating AUC-guided monitoring into the routine management of pediatric kidney transplant recipients.

BACKGROUND: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by biallelic loss-of-function variants of the survival motor neuron 1 (SMN1) gene on chromosome 5q13. It has been reported that SMA may affect the function of the kidneys. Here, we report a patient with co-occurrence of SMA and IgA nephropathy (IgAN).

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CONCLUSIONS: Adolescent high fructose intake impairs adult cardiac function by downregulating Cpt1b and increasing histone acetylation, suggesting novel mechanisms and therapeutic targets for fructose-induced cardiac dysfunction.

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

CONCLUSION: RAMA utilizes a tree-based decision-making algorithm, allowing it to determine the risk of mortality in neonates susceptible to AKI.

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CONCLUSIONS: We show reassuring pregnancy outcomes for post-HTx, LTx, and HLTx patients in an exclusive European cohort, despite high pregnancy complication rates. Graft function and overall maternal survival appear unaffected. We highlight differences in pregnancy management between centers and suggest development of a uniform approach.

CONCLUSION: A four-variable admission nomogram can stratify early HS risk in children with NS using routine data. External multicentre validation remains necessary.

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

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

CONCLUSIONS: Since the covid-19 pandemic, there have been fewer diagnoses than expected for conditions such as depression, asthma, COPD, and osteoporosis, in contrast with a rapid increase in diagnoses of chronic kidney disease since 2022. Unadjusted analyses stratified by ethnicity and socioeconomic status suggest differential patterns of recovery, particularly for individuals with dementia. This study highlights the potential for near real time monitoring of disease epidemiology using...

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.

BACKGROUND: The global burden of sepsis, a life-threatening dysregulated host response to infection leading to organ dysfunction, remains challenging to quantify. We aimed to comprehensively estimate the global, regional, and national burden of sepsis, including the impact of the COVID-19 pandemic and underlying causes of sepsis-related deaths with co-occurring infectious syndromes.

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,...

CONCLUSION: Hybrid meetings, allowing for more flexibility and better utilization of resources, were the preferred modality for scientific meetings, regardless of the number of participants. A targeted survey could further explore how to optimize meeting attendance and participation in scientific discussions.

CONCLUSION: Coronavirus disease 2019 infection could be a possible trigger factor for acute interstitial nephritis and Vogt-Koyanagi-Harada disease. Early diagnosis and treatment of these autoimmune features with corticosteroids and other antiinflammatory agents can help in faster improvement in these patients. In addition, it is crucial for physicians to consider Vogt-Koyanagi-Harada disease in pediatrics as one of the coronavirus disease 2019 complications for early diagnose and current...

CONCLUSIONS: Electrocardiometry can assess the hemodynamic profile of children receiving CKRT. Compensatory cardiovascular changes remain intact in children receiving CKRT, as evidenced by correlations between SVI, SVRI, CI, and MAP. Future studies should investigate how this technology could enable more individualized CKRT prescriptions and improve patient outcomes.

CONCLUSION: In this study, despite facing the challenge of fear of death, nurses have tried to adhere to ethical principles, however, it is recommended to investigate other factors affecting the moral performance of nurses.

CONCLUSIONS: PIGN incidence decreased during the early COVID-19 pandemic (2020-2022), followed by a resurgence of cases with an altered seasonality pattern. During the pandemic, children with PIGN were younger and had milder disease severity.

To investigate the real-world effectiveness of COVID-19 vaccines in a large cohort of patients with diabetes mellitus (DM), we analyzed all >18-year-old patients with COVID-19 registered in a Brazilian nationwide surveillance database between February 2020 and February 2023. The primary outcome of interest was vaccine effectiveness against death, evaluated using multivariate logistic regression models. Among the 2,131,089 patients registered in the SIVEP-Gripe, 482,677 (22.6%) had DM. After...

Background/Objectives: COVID-19 has impacted Romania's healthcare, economy, society, and public health. This study aims to evaluate the financial impact of the COVID-19 pandemic in Romania by analyzing both hospital costs and key elements of economic costs. The assessment was conducted from the perspective of the national payer. Hospital costs were analyzed covering two distinct timeframes: Q4 2020-Q3 2021 and Q1 2022-Q4 2022. The estimation of economic costs covered Q4 2020-Q3 2021. Methods:...

CONCLUSION: In our small single-center cohort, SARS-CoV-2 vaccination or infection is unlikely to increase the risk for rejection or de novo DSA in pediatric kidney transplant recipients. Larger prospective studies with a control group are needed to further understand the immune effects of the COVID-19 vaccine and disease in this population.

The use of extracorporeal membrane oxygenation has been increasing over time, in part due to the COVID-19 pandemic. Whilst lifesaving, complications that must be managed are also associated with its use. AKI and fluid overload are complications of concern due to their associations with poor outcomes, and ability to be managed by additional interventions such as the use of kidney replacement therapy. Various modalities, timings, and types of kidney replacement therapy are currently being used and...

CONCLUSIONS: In a systematic pre/post comparison of individual-level relapse frequency, we found no significant difference in risk or rates of relapse after COVID-19 vaccination in children with NS.

CONCLUSIONS: Although hospitalisations for pneumonia and prescriptions for anti-asthma drugs increased immediately after downgrading COVID-19, no step increase in mortality was observed presumably because older people were less affected than children.

Although the coronavirus disease 2019 (COVID-19) vaccine has been proven to be effective and safe in most adults and children, various diseases, including IgA nephropathy, sometimes occur as an adverse effect. We herein describe a case of IgA nephropathy in a 16-year-old, male patient with persistent kidney dysfunction following COVID-19 vaccination and present the clinicopathological course of the disease. The patient presented to the outpatient clinic with a history of gross hematuria 6 days...

CONCLUSION: If bilateral nephrectomy is necessary in oncological patients, the timing of renal transplant should be discussed by multidisciplinary team. In our cases, the different time to renal transplantation was associated with different outcomes. Clinicians should have common lines about the time of renal transplantation in pediatric oncology; however, a personalized planning could be suggested after discussion among specialists, evaluating case to case. The presented field needs more...

CONCLUSIONS: Cardiac abnormalities in pediatric COVID-19 patients show a significant correlation with pulmonary involvement, highlighting their link to disease severity. Routine cardiac assessments may help identify complications and guide management, especially during sporadic cases and seasonal outbreaks.

CONCLUSIONS: To our knowledge, this is the first report of a pediatric kidney transplant patient with tacrolimus toxicity secondary to NIM-RTV therapy utilizing phenytoin/fosphenytoin to induce tacrolimus metabolism and prevent further toxicity. Heightened awareness of this interaction is paramount to reduce allograft injury and promote patient safety.

Background/Objectives: The prevalence of chronic kidney disease (CKD) is increasing worldwide, and this tendency is also visible in pediatric patients. The major clinical challenge is to achieve a diagnosis as early as possible, despite an overt clinical course, especially in the early stages of the disease. Unfavorable external conditions may disturb the proper treatment of chronically ill patients and delay the time of diagnosis. The recent COVID-19 pandemia might have altered the usual...

In a subset of children and adolescents, SARS-CoV-2 infection induces a severe acute hyperinflammatory shock¹ termed multisystem inflammatory syndrome in children (MIS-C) at four to eight weeks after infection. MIS-C is characterized by a specific T cell expansion² and systemic hyperinflammation³. The pathogenesis of MIS-C remains largely unknown. Here we show that acute MIS-C is characterized by impaired reactivation of virus-reactive memory T cells, which depends on increased serum levels of...

CONCLUSIONS: CDS improved influenza vaccination rates in hospitalized children. However, decreased rates over time may indicate waning CDS effectiveness or external factors such as COVID-19, as well as increased vaccine hesitancy.

Aim During pandemic periods, psychogenic assessment and precautions are critical for patients requiring hospitalization. This study investigates the factors influencing anxiety levels in patients hospitalized for coronavirus disease 2019 (COVID-19) and analyzes the impact of demographic, social, and medical variables on anxiety and depression levels. Methods The research involved 150 female and 180 male patients hospitalized and treated in the adult pandemic service of a tertiary referral center...

Laboratory testing has played a pivotal role throughout the coronavirus disease 2019 (COVID-19) pandemic, exemplifying the importance of in vitro diagnostics in addressing public health threats posed by outbreaks of infectious diseases. This article aims to present key insights from our expertise, derived from evidence gathered during the COVID-19 pandemic, to inform strategies for managing future infectious challenges. Current scientific evidence underscores that patient sample testing not only...

AXL, a member of the TAM receptor family, has emerged as a potential target for advanced-stage human malignancies. It is frequently overexpressed in different cancers and plays a significant role in various tumor-promoting pathways, including cancer cell proliferation, invasion, metastasis, epithelial-mesenchymal transition (EMT), angiogenesis, stemness, DNA damage response, acquired therapeutic resistance, immunosuppression, and inflammatory responses. Beyond oncology, AXL also facilitates...

CONCLUSIONS: Our findings indicate that preventing and mitigating long COVID remains a public health priority. Examining temporal patterns and risk factors for long COVID incidence informs our understanding of etiology and can improve prevention and management.

CONCLUSIONS: Our study observed high levels of excess kidney failure-related mortality during the first two years of the pandemic, followed by a notable decline in the third year. This highlights the effectiveness of current policies and prevention measures implemented to mitigate the impact of the pandemic.

CONCLUSIONS: Overall, virtual study visits were appreciated and endorsed by study coordinators. Researchers should consider the feasibility of completing study-related tasks virtually, including accessibility of visual materials on all type of electronic devices, and ensure adequate training of study personnel when deciding to implement virtual platform in CRTs.

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

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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%...

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CONCLUSION: Thrombocytopenia in APS patients, particularly in severe cases, correlates with heightened thrombotic risk and systemic manifestations. These findings highlight the importance of customized strategies that balance thrombosis prevention with bleeding risk, especially in complex cases.

CONCLUSIONS: Using data-driven and consensus methodology, EAPSDAS was developed and initial validation was performed. Further validation in prospective studies is warranted.

Congenital lower urinary tract obstruction (cLUTO) describes a heterogeneous spectrum of congenital lower urinary tract defects with variable postnatal outcomes, ranging from high morbidity and mortality to spontaneous resolution. In the past, fetal intervention studies aimed at mitigating the disease sequelae of cLUTO have yielded inconclusive results, which contributed to the current heterogeneous antenatal management of fetuses with cLUTO across fetal surgery centers. The recent development...

CONCLUSIONS: Advanced PH1 is associated with high morbidity and mortality rates.

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 strengthens the real-world evidence on aHUS and adds to previously published Global aHUS Registry data. In addition, it provides insights into the differential epidemiology of the disease in Belgium and demonstrates the increased susceptibility of women to aHUS across the whole spectrum of recognized complement gene variants.

CONCLUSIONS: TAK is a rare, potentially life-threatening large-vessel vasculitis. Early recognition is crucial for timely diagnosis and aggressive treatment initiation. Children with TAK often experience a complex disease course requiring multiple treatment adjustments and surgical or endovascular interventions. Large, multinational collaborations are essential for advancing our knowledge and improving patient outcomes.

CONCLUSIONS: All patients with iFH-N had similar clinical presentation, appeared to be refractory to aggressive IS, and had poor renal outcome.

CONCLUSION: These data represent the longest published follow-up of lumasiran-treated patients with PH1 (ages: 6-43 years) to date. Long-term lumasiran treatment for PH1 had acceptable safety and led to sustained and substantial reduction of UOx with preservation of kidney function.

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CONCLUSIONS: The study emphasized the significant association between CKD and CVD persisting across socioeconomic strata. The findings highlight socioeconomic disparities, emphasizing the importance of a multidisciplinary care approach and further research to address inequalities in the CKD-CVD relationship.

CONCLUSION: Long-term data support the good safety and efficacy profile of Sibnayal^(®) in the treatment of dRTA with adequate control of metabolic acidosis, stable kidney function and significant positive long-term clinical outcomes.

CONCLUSIONS: GF increased with subsequent KTx. GF and death with a functioning graft after second transplantation improved with calendar year of transplantation, reflecting improvements in transplant care over time. Older donor age, DD KTx, short primary graft survival, high PRA, and increasing HLA-DR mismatch were associated with a higher predicted composite outcome.

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Lumasiran, an RNA interference therapeutic, demonstrated effectiveness in clinical trials, leading to approval for primary hyperoxaluria type 1 management in all age groups. To date, little is known about its use in newborns. This study assesses, for the first time, the oxalate and glycolate metabolism in a newborn affected by primary hyperoxaluria type 1 treated at birth. His older brother, also affected by primary hyperoxaluria type 1, experienced severe disease progression and significant...

CONCLUSIONS: The present study confirms that FGN is primarily a B-cell-driven disease and provides evidence that FGN can be effectively managed by achieving a profound depletion of CD20+ B lymphocytes; the disease is highly progressive and probably requires prolonged maintenance treatment; and, last, early diagnosis is critical for long-term outcome because a significant glomerular sclerosis at the time of the first biopsy precludes the possibility of reversing or stabilizing the course of the...

Genetic investigations in nephrology have long been viewed as the prerogative of paediatricians or restricted to archetypal genetic nephropathies with highly penetrant variants affecting young adults. However, genetic testing has emerged as a pivotal tool in the field of adult nephrology, with the ability to revolutionize the understanding and management of adult kidney diseases. Here, we explore the multifaceted role of genomic testing (such as exome or genome sequencing) in chronic kidney...

CONCLUSION: Heatmap analyses reveal a significant but incomplete overlap of RD clinical trial sites between ERNs and c4c in parts of Europe, suggesting strong potential for cross-network collaboration to enhance paediatric RD trial recruitment and outcomes.

JAK inhibitors (JAKi) are small molecules that interact with JAK proteins, modulating the JAK-STAT signaling pathway, which plays a significant, though not yet fully understood, role in immune regulation. Due to the breadth of their mechanism of action, JAKi have shown promising results in the treatment of various immune-mediated diseases across different fields such as rheumatology or dermatology, and may represent a valuable therapeutic option for patients with multiple coexisting...

CONCLUSION: DAILY-LUMA is the largest cohort of patients receiving lumasiran in real life, confirming its safety and efficacy at 2 years.

CONCLUSIONS: The updated recommendations provide consensus guidance and will help to improve the quality of care of patients during the phases of reproduction, pregnancy, and lactation.

CONCLUSIONS: Current amoxicillin-clavulanate dosing regimens for critically ill children after cardiac surgery need to be updated to avoid subtherapeutic concentrations and clinical failure due to augmented clearance (ClinicalTrials.gov NCT02456974).

CONCLUSION: Pretreating formulas with resins is a reproducible and straightforward method when specific diets for CKD are unavailable. However, it is important to keep in mind that resins may impact the overall composition (osmolality) and the concentration of other nutrients (folates).

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Background/PurposeAPS ACTION Registry was created to study the natural course of antiphospholipid syndrome (APS) over 10 years in persistently antiphospholipid antibody (aPL) positive patients with or without systemic autoimmune rheumatic diseases (SARDs). Our primary objective was to compare the characteristics of aPL-positive patients with or without thrombocytopenia (TP) and/or autoimmune hemolytic anemia (AIHA).MethodsThe registry inclusion criteria are positive aPL based on the Revised...

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CONCLUSIONS: Significant histologic LN findings are observed in 30% of SLE patients without overt kidney disease; frequently associated with high-titer dsDNA, anti-Smith antibodies, and/or hypocomplementemia. Thus, baseline kidney biopsy in newly diagnosed SLE patients, irrespective of clinical and laboratory manifestations, may aid in guiding therapy.

CONCLUSIONS: The CRM is representative of patient anti-β2GPI/CL heterogeneity and should improve anti-β2GPI IgG method harmonization. However, the level of achievable method harmonization is affected by differences in the selectivity among the assays.

Background/Objectives: Cryofibrinogenemia, characterized by plasma cryoprecipitation of fibrinogen and related proteins, is a rare and often under-recognized entity that can present with significant renal involvement. Methods: we describe a 66-year-old woman with progressive renal failure due to membranoproliferative glomerulonephritis driven by cryofibrinogen deposits. Her clinical course was marked by relapsing-remitting disease with limited response to high-dose corticosteroids but...

CONCLUSION: A unified commitment to prioritizing URDs on the global health agenda, paired with targeted funding, stipulated national strategies, and aligned international cooperation, is imperative to leveling the playing field for the diagnosis and management of URDs and capitalizing on the potential of Advocacy Groups as allies in this endeavor.

The role of classification criteria is particularly important in rheumatic diseases compared with other medical disorders, as the complexity and overlapping symptoms of these conditions make diagnosis challenging. Moreover, the absence of established diagnostic criteria further complicates diagnosing patients. Classification criteria can assist health-care professionals and patients as a diagnostic aid. However, classification criteria are developed for research purposes to standardise...

CONCLUSION: This ultrarare presentation highlights the need to consider determining anti-GBM antibodies and/or obtaining a kidney biopsy even in children with less severe presentations of unexplained glomerulonephritis and underlines the clinical treatment dilemma in this disease for children due to the potential long-term sequelae.

Proper management of lithiasis-related diseases is essential, as they often cause pain that can be difficult to alleviate, leading to significant morbidity and substantial healthcare costs. In rare cases, lithiasis may indicate a more serious underlying condition that could progress to chronic kidney disease. The French Association of Urology (AFU) provides recommendations for the initial assessment of any patient experiencing a first episode of lithiasis, emphasizing the importance of stone...

CONCLUSIONS: Based on pharmacokinetic modeling, we developed oral and intravenous eliglustat dosing regimens that are likely safe and effective for treatment of STEC-HUS and prophylaxis in case of outbreaks of STEC infections. Clinical evaluation of these dosing regimens in children suspected of or diagnosed with STEC-HUS is required and should include assessment of pharmacokinetics, efficacy, and safety (e.g., ECG monitoring).

CONCLUSIONS: Lupus podocytopathy typically presents with nephrotic syndrome and kidney dysfunction, it responds favourably to treatment, and generally results in a favourable renal outcome. We observed that more active renal and extrarenal lupus manifestations at the onset of lupus podocytopathy were indicative of higher susceptiblity to disease recurrence.

CONCLUSIONS: In this real-world setting, sparsentan shows a significant impact on proteinuria, leading to a relative reduction of 62% in UPCR after 14 weeks and beyond, even in patients already receiving SGLT2 inhibitors.

CONCLUSION: Laws or written national recommendations for paediatric maintenance HD are rare in European countries and very heterogeneous when they exist. This calls for discussion among paediatric and adult nephrologists and health authorities on the organisation of safe and effective paediatric HD practices.

Recent progress has notably improved outcomes for patients with anti-neutrophil cytoplasmic antibody-associated vasculitis (AAV), namely granulomatosis with polyangiitis and microscopic polyangiitis. Since 2021, several international scientific societies have recommended rituximab (RTX) as the preferred primary treatment for maintaining remission in AAV patients. Decisions regarding retreatment with RTX are based on individual patient risk factors for disease flare-ups and the potential...

Methylmalonic acidemias (MMAs) are rare inherited metabolic diseases with multiorgan involvement. Chronic kidney disease (CKD) is a common complication, leading to kidney failure, dialysis, and kidney transplantation (KT). The objective of these guidelines was to develop clinical practice recommendations focusing on specific aspects of the kidney management of this disease. Development of these clinical practice recommendations is an initiative of the European Reference Network for Rare Kidney...

Glomerular nephropathy resulting from the genetic defects in COL4A3/4/5 genes including the classical Alport syndrome is the second most common hereditary kidney disease characterized by persistent haematuria progressing to the need for kidney replacement therapy, frequently associated with sensorineural deafness, and occasionally with ocular anomalies. Diagnosis and management of COL4A3/4/5 glomerulopathy is a great challenge due to its phenotypic heterogeneity, multiple modes of inheritance,...