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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Background/Objectives: Hemolytic uremic syndrome (HUS) is a known cause of acute kidney injury in children, but there are few recent reports on its epidemiology and outcome. We aimed to investigate trends in the incidence and the long-term outcomes of both Shiga toxin-producing Escherichia coli -HUS (STEC-HUS) and atypical HUS (aHUS) in Poland over the last 12 years (2012-2023), based on the Polish Pediatric HUS and Pediatric Renal Replacement Therapy (RRT) Registries. Methods: A total of 436...

The efficacy and safety of rituximab in childhood steroid-resistant nephrotic syndrome (SRNS) remains unclear. Therefore, we conducted a retrospective cohort study at 28 pediatric nephrology centers from 19 countries in Asia, Europe, North America and Oceania to evaluate this. Children with SRNS treated with rituximab were analyzed according to the duration of calcineurin inhibitors (CNIs) treatment before rituximab [6 months or more (CNI-resistant) and under 6 months]. Primary outcome was...

Paroxysmal cold hemoglobinuria (PCH) is among the rarest forms of autoimmune hemolytic anemia, most often seen in young children. PCH is caused by a biphasic immunoglobulin G antibody that binds to red cells at low temperatures and causes complement-mediated lysis as the temperature is raised. Diagnosis is based on high clinical suspicion followed by confirmation of the presence of Donath-Landsteiner antibodies. We have described 3 cases diagnosed with PCH over a span of 1 year, 2 cases...

To promote improved trial design in upcoming randomized clinical trials in childhood chronic kidney disease (CKD), insight in the within- and inter-patient variability of uremic toxins with its nutritional, treatment- and patient-related confounding factors is of utmost importance. In this study, the within- and inter-patient variability of a selection of uremic toxins in a longitudinal cohort of children diagnosed with CKD was assessed, using the intraclass correlation coefficient (ICC) and the...

Early-onset systemic lupus erythematous (SLE) is a distinct clinical entity characterized by the onset of disease manifestations during childhood. Despite some similarities to patients who are diagnosed during adulthood, early-onset SLE typically displays a greater disease severity, with aggressive multiorgan involvement, lower responsiveness to classical therapies, and more frequent flares. Lupus nephritis is one of the most severe complications of SLE and represents a major risk factor for...

CONCLUSION: Concomitant inheritance of ADPKD and development of WT are extremely rare, and manifestations of ADPKD may not present until late childhood or adulthood. ADPKD is not a known predisposing condition for WT. When ADPKD diagnosis is made by family history, imaging, and/or genetic testing before WT diagnosis and treatment, the need for extensive preoperative characterization of cystic kidney lesions in children and increased risk of post-nephrectomy kidney failure warrant further...

While it is widely accepted that the nutritional management of the infant with chronic kidney disease (CKD) is paramount to achieve normal growth and development, nutritional management is also of importance beyond 1 year of age, particularly in toddlers, to support the delayed infantile stage of growth that may extend to 2-3 years of age. Puberty is also a vulnerable period when nutritional needs are higher to support the expected growth spurt. Inadequate nutritional intake throughout childhood...

CONCLUSION: In our cohort of patients with cloacal malformations following a strict renal protection protocol, incidence of progressive renal dysfunction is low at 2.9%. Most who go on to renal dysfunction present with impaired renal function.

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: This case highlights that, within an immune context characterized by B-cell hyperactivation, anti-CNTN1 antibodies may mediate immune injury to both the peripheral nerves and kidneys by targeting shared antigens. Clinicians should recognize key diagnostic clues, including massive proteinuria, postural tremor, and poor response to intravenous immunoglobulin, to facilitate early identification of AN.

Immunoglobulin A-dominant infection-related glomerulonephritis (IgA-DIRGN) is a rare variant of acute postinfectious glomerulonephritis, typically seen in elderly individuals with comorbid conditions. IgA-DIRGN is characterized by diffuse endocapillary proliferation and the formation of mesangial deposits of IgA and C3, leading to inflammation and subsequently resulting in acute kidney injury, proteinuria, hematuria, and hypocomplementemia. In this report, we describe an immunocompromised...

Serum protein electrophoresis (SPEP) is commonly used in the diagnostic evaluation of nephrotic syndrome (NS) to rule out monoclonal gammopathies. However, NS itself and various other factors may cause transient bisalbuminemia, resulting in albumin fraction irregularities in capillary SPEP and complicating interpretation. This study proposes a stepwise approach for interpreting albumin fraction irregularities, illustrated through three representative cases of NS. Case 1: a 44-year-old woman with...

Older adult patients with acute-onset minimal change nephrotic syndrome (MCNS) often have difficulties with exercise therapy due to uremia caused by severe generalized edema and acute kidney injury (AKI). Rehabilitation treatment targeting increased light-intensity physical activity (LPA) is typically implemented to address this limitation. An 81-year-old man with suspected MCNS complicated by stage I AKI was admitted to our hospital. The patient's short physical performance battery (SPPB) score...

CONCLUSION: This report suggests that the fulminant cerebral edema observed in this patient may have been related to blood-brain barrier (BBB) vulnerability following ischemia-reperfusion injury, together with superimposed systemic inflammatory stress and markedly reduced oncotic buffering capacity. Acute dengue infection may have acted as a systemic endothelial and inflammatory stressor during the post-reperfusion vulnerable period, rather than as an independent primary cause. Severe...

Kidney diseases, including acute kidney injury (AKI), chronic kidney disease (CKD), nephrotic syndrome (NS) and diabetic nephropathy (DN), represent a major global public health concern. Salvianolic acids are water-soluble bioactive components from Salvia miltiorrhiza, among which salvianolic acid A (SAA), salvianolic acid B (SAB) and salvianolic acid C (SAC) are the focus of current research. This review systematically elaborates their renoprotective value, establishes a clear...

Proteinuria in children is most often transient or orthostatic. However, the diagnosis and treatment of persistent proteinuria may significantly impact long-term health outcomes, as persistent proteinuria is both a sign of underlying kidney pathology as well as a modifiable risk factor for progression of kidney disease. The differential diagnosis of proteinuria differs depending on whether proteinuria is glomerular or tubular. This article reviews the pathophysiology, evaluation, and management...

CONCLUSIONS: Limited by retrospective case report methodology, this largest cohort to date suggests IgAN complicating SLE manifests a distinctive phenotype that bridges features of primary IgAN and lupus nephritis. Although immunosuppression is effective, long-term renal risk remains non-negligible. Early recognition and targeted therapy may improve outcomes.

We report the case of a patient with a severe neuro-renal syndrome characterized by acute-onset autoimmune nodopathy and nephrotic syndrome with acute kidney injury. The presence of IgG3 antibodies anti-pan-neurofascin (Nfasc155/186) confirmed the autoimmune nature of this pathology and justified treatment with plasma exchange, corticosteroids, tacrolimus, and subsequently rituximab. Kidney biopsy revealed focal segmental glomerulosclerosis lesions. This therapeutic approach led to complete...

CONCLUSION: We report for the first time that biallelic FLNB pathogenic variants are associated with paediatric SRNS by disrupting Filamin B expression, cytoskeletal integrity and podocyte function, providing evidence that FLNB is a novel monogenic cause of SRNS.

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Sphingosine-1-phosphate lyase insufficiency syndrome (SPLIS) is a rare condition causing nephrotic syndrome, neuropathy, and other manifestations. SPLIS is caused by mutations in SGPL1 , which encodes sphingosine-1-phosphate lyase (SPL), a pyridoxal 5'-phosphate (PLP)-dependent enzyme needed to degrade the bioactive sphingolipid sphingosine-1-phosphate (S1P). Supplementation with the PLP precursor pyridoxine benefits some individuals with PLP-dependent enzymopathies. We sought to establish...

CONCLUSION: This case expands the clinical spectrum of CRB2-related kidney disease and highlights the importance of genetic testing in adults with unexplained CKD. Identifying genetic forms of CKD may refine diagnostic and therapeutic approaches in nephrology.

Autosomal dominant Alport syndrome results from heterozygous pathogenic variants in COL4A3 or COL4A4, and is the commonest monogenic kidney disease, affecting about 1% of the population. It is characterised by persistent glomerular hematuria, a thinned glomerular basement membrane and a family history of kidney disease. The typical Alport hearing loss and ocular abnormalities are not present. Autosomal dominant Alport syndrome is common in cohorts with hematuria, proteinuria or steroid-resistant...

CONCLUSION: The present study recommended an initial tacrolimus dosage regimen for PNS based on the wuzhi capsule.

Childhood idiopathic nephrotic syndrome remains treated empirically despite profound pathophysiological heterogeneity. Tu et al. develop a polygenic risk score incorporating clinical data and human leukocyte antigen class II variants to stratify steroid responsiveness at diagnosis. Although predictive performance remains modest and several limitations preclude immediate clinical translation, this work represents a pivotal step toward precision nephrology, envisioning a future where clinical,...

CONCLUSION: In conclusion, we demonstrated, in unrelated LPG patients with LPG carrying the same ApoE mutation, a protective role of LA on proteinuria and progression toward CKD. This LA-associated protective effect may be at least in part related to the modulation of biologically active EVs in patients' plasma.

The glomerular podocyte is the final barrier preventing urinary protein loss, relying on a resilient ultrastructure exposed to shear stress and hydrostatic forces. While often affected secondarily by systemic disease, podocytes are primary targets in conditions such as nephrotic syndrome. S100 proteins, involved in diverse intra- and extracellular functions, are linked to several diseases, yet their roles in podocytes remain poorly defined. The available podocyte-specific literature remains...

CONCLUSION: This study provides the first large-scale evaluation of MRNS using FAERS. By identifying high-risk medications and characterizing onset-time patterns, these findings offer valuable evidence for early risk recognition and may support improved pharmacovigilance strategies to reduce medication-related kidney injury.

CONCLUSIONS: When considered necessary to establish a diagnosis during pregnancy, kidney biopsy performed in the first two trimesters appears to be safe, with a high diagnostic yield and a significant impact on therapeutic decision-making and patient management.

BACKGROUND: Kidney xenotransplantation has re-emerged as a viable therapeutic strategy to address the global shortage of donor organs, driven by substantial advances in porcine genetic engineering and immunomodulatory therapies. Clinical experiences in brain-dead decedents and, more recently, in living recipients have demonstrated that genetically modified pig kidneys can provide life-sustaining renal function in humans, marking a pivotal milestone in the field.

Background. Fibronectin glomerulopathy (FNG) is a rare autosomal dominant glomerulopathy characterized by proteinuria, hematuria, hypertension, and gradual progression to end-stage renal disease (ESRD) over 15-20 years. The disease is caused by mutations in the FN1 gene. Currently, there is no specific treatment for FNG. Case Report. A 22-year-old female presented with sub-nephrotic proteinuria and microscopic hematuria. Renal biopsy revealed mesangial expansion and electron-dense deposits...

CONCLUSION: Renal AA amyloidosis is a severe complication of IBD with poor renal prognosis. Early detection and effective control of chronic inflammation are essential to improve outcomes.

CONCLUSIONS: In this population-based study LTFR occurred in many cases well beyond puberty, in both groups, favoring the role for disease length on LTFR, probably due to maturational immune system changes.

A previously healthy 44-year-old man presented with acute severe dyspnea. Laboratory evaluation revealed severe hypoalbuminemia, elevated low-density lipoprotein cholesterol and D-dimer levels, and marked proteinuria, suggesting nephrotic syndrome (NS). Imaging demonstrated bilateral pulmonary emboli with right ventricular strain. Since he developed progressive shock, veno-arterial extracorporeal membrane oxygenation (VA ECMO) and thrombolytic therapy were initiated. Persistent thrombi and...

Monoclonal gammopathy of renal significance (MGRS) is a clonal cell proliferative disorder, characterized by the production of monoclonal immunoglobulins in patients that do not meet hematological criteria for a specific malignancy. It can be present in B cell and plasma cell clonal proliferative diseases and accounts for 10% of monoclonal gammopathy of undetermined significance (MGUS) cases. We present a case of a patient presenting with acute kidney injury, hematuria, and nephrotic syndrome,...

CONCLUSIONS: Anti-PLA2R antibodies promote endothelial pyroptosis and a TF-high procoagulant phenotype through FcγRI signaling in vitro.Complement signaling amplifies this response. Targeting FcγRI-inflammasome pathways may mitigate thromboembolic risk in MN.

Nephrotic syndrome can have overlapping features across multiple diseases, making diagnosis difficult without tissue confirmation. We describe a 30-year-old uninsured Hispanic woman with type 1 diabetes, hypertension, and CKD3B who presented with nephrotic syndrome, sepsis, and progressive muscle weakness. Her pleural effusions, periorbital changes, elevated free light chains, and dysphagia raised concern for systemic conditions such as amyloidosis or polymyositis, especially given inconsistent...

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CONCLUSIONS: Collectively, these insights inform the Prepare-NS initiative's ongoing development and validation efforts. Incorporating standardized COAs in NS clinical trials could expand efficacy endpoints and pave the way for patient-centered NS drug development.

CONCLUSIONS: This work presents the first machine learning-based early prediction model for SDNS/FRNS using clinical big data from the acute phase of the condition. Additionally, it introduces an online prediction tool for paediatric SDNS/FRNS.

Lymphomatoid granulomatosis is a rare lymphoproliferative disease caused by dysfunction of host surveillance of Epstein-Barr virus (EBV)-infected B cells, which predominantly affects male adults, with a median onset at 46 years. Diagnosis can be challenging due to its nonspecific symptoms and the need for careful histopathological evaluation, particularly in atypical presentations. Here, we present a case of a 42-year-old Black man from Senegal with no past medical history who presented with a...

Chronic granulomatous disease (CGD) is an inborn error of immunity (IEI) characterized by defective NADPH oxidase activity, leading to severe infections, hyperinflammation, and immune dysregulation. Autoimmune manifestations are increasingly recognized, whereas systemic lupus erythematosus (SLE) with renal involvement is exceedingly rare. We report an 11-year-old boy with X-linked CGD who developed SLE complicated by class IV/V lupus nephritis (LN), presenting with progressive cutaneous lesions,...

CONCLUSIONS: Hypogammaglobulinemia is common in refractory LN. Belimumab treatment may increase the possibility of IgG reduction and the risk of infection. Pediatric patients with LN whose serum IgG levels are below 4 g/L always receive IVIG replacement therapy because of infection. In patients treated with belimumab, monitoring IgG levels is necessary, and IgG replacement therapy should be more aggressive.

Focal segmental glomerulosclerosis (FSGS) is a progressive glomerular disease characterized by podocyte injury, proteinuria, and risk of kidney failure. Until recently, no medicines had been approved by the FDA or European Medicines Agency, with management focused on supportive care and proteinuria reduction. This supplement explores the burden of FSGS from a clinical, humanistic, and economic perspective, informed by the results of 3 systematic literature reviews. FSGS is associated with poorer...

CONCLUSION: YPFS extract ameliorates cisplatin-induced renal interstitial fibrosis by suppressing IL-6/JAK/STAT3 signaling and restoring mitochondrial homeostasis. These findings provide a pharmacological basis for the traditional use of this formula and highlight its potential as an adjunct therapy for reducing chemotherapy-related kidney injury.

Nephrotic syndrome is one of the most common causes of kidney disease in children. The glomerular and tubulointerstitial changes that occur in the kidney due to this state of high-grade proteinuria are incompletely understood. Here, we report a mouse model of congenital nephrotic syndrome, induced by deletion of transcription factor 21 (Tcf21) from podocyte precursors, that can be used to study the injury sustained by young kidneys in response to nephrotic range proteinuria. Tcf21 is required...

CONCLUSION: Since several diseases, including MN, IgA nephropathy and AIN, are frequently treatable or even curable, our study demonstrated the need for early suspicion and diagnosis of NDKD.

CONCLUSION: Integrative analysis of LR crosstalk, knockdown experiments, and molecular docking reveals potential drug targets.

Complement dysregulation is frequently implicated in the thrombotic microangiopathy (TMA) known as atypical hemolytic uremic syndrome (aHUS). Diacylglycerol kinase epsilon (DGKE) mutations encode a non-complement regulatory protein, and pathogenic variants in DGKE define a distinct form of aHUS. Indeed, the DGKEgene encodes a key enzyme involved in intracellular signaling. While eculizumab and other anti-C5 monoclonal antibodies are widely used in complement-related aHUS, their relevance in...

Background and Objectives: Acute kidney injury (AKI) is a frequent and life-threatening complication in patients with liver cirrhosis (LC). Nephrotic-range proteinuria may reflect underlying structural renal vulnerability; however, its association with AKI severity in cirrhosis remains unclear. Materials and Methods: We conducted a retrospective cohort study of 408 adults with LC admitted to a tertiary referral hospital between January 2016 and December 2025. Nephrotic-range proteinuria was...

CONCLUSIONS: Increased doses/sessions or additional therapies for rFSGS associated with more favorable outcomes. Non-linear modelling identified when further increases did not improve outcomes.

CONCLUSIONS: Taken together the clinical findings and the in vitro experimental laboratory results suggest that APOL1 allele phasing may be informative in selected cases where both G2 and N264K are reported, and support development of APOL1-mediated kidney disease biomarkers and genotype-informed therapies.

Osteoarthritis is a chronic disabling disease characterized by progressive degeneration of articular cartilage. The condition is characterized by an imbalance in the inflammatory response, the degradation of the extracellular matrix, the apoptosis of chondrocytes, and the disorder of the immune microenvironment. The present clinical efficacy of the treatment is unsatisfactory due to the limited self-healing ability of the articular cartilage. In recent years, there has been a growing body of...

CONCLUSIONS: Cyclosporine may serve as a pragmatic therapeutic option for class V lupus nephritis in resource-limited settings where standard regimens are ineffective or unavailable. This case underscores the importance of considering CNIs as salvage therapy. Further controlled studies are warranted to evaluate efficacy, safety, and to define the role of cyclosporine in treatment algorithms for lupus nephritis.

Waldenström macroglobulinemia (WM) is a rare CD20-positive B-cell non-Hodgkin lymphoma. It is characterized by lymphoplasmacytic infiltration in the bone marrow and abnormal monoclonal IgM secretion. WM complicated by renal amyloidosis is uncommon but associated with rapid progression of organ damage. Accurate identification of pathogenic factors and individualized treatments are essential to improve prognosis. This paper reports the case of a 75-year-old female who initially presented with...

CONCLUSION: The findings of this study demonstrated that hucMSC-exos alleviated the symptoms of PU mice by regulating HGMB1 and α-SMA, thus demonstrating the therapeutic potential of hucMSC-exos in PUs.

CONCLUSION: Dietary and lifestyle modifications led to a decline in endothelial dysfunction markers and an improvement in lipid profile. Statins helped improve dyslipidemia but did not significantly improve endothelial dysfunction markers at 12 weeks.

CONCLUSION: Male patients with PNS exhibit abnormal serum sex hormone, BMP-7, and RBP levels, which are associated with AKI. E2, BMP-7, and RBP levels demonstrate significant predictive potential in assessing AKI risk in PNS.

CONCLUSIONS: Recurrent infections were frequent among affected patients. Prompt antibiotic treatment upon suspicion of infection as well as the removal of indwelling devices may have contributed to the overall favorable outcomes in our cohort. Further studies are required to address the usefulness of identified variables to guide clinical decision making.

CONCLUSIONS: PD displays substantial environmental impact variability across centres, driven by differences in material consumption, waste management, energy sourcing, and clinical protocols. Cleaner energy profiles, effective waste management, and reduced reliance on single-use consumables may lower environmental burdens. These findings underscore the importance of integrating environmental performance into clinical decision-making and health system planning.

CONCLUSION: This simple survey revealed that definitive diagnosis of PH occurs at older age accompanied with higher rate of kidney transplantation.

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

CONCLUSIONS: This study provides initial evidence for the feasibility of pig-to-human orthotopic whole-liver plus bilateral-kidney transplantation and identifies early immune and metabolic features that may inform perioperative management and future clinical translation.

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Improving Medication Adherence in Adolescents who had a Liver Transplant (iMALT), a prospective, block-randomized, single-blind, controlled multisite study in 13 pediatric transplant centers, used the medication level variability index (MLVI) to identify non-adherent adolescents. It compared a two-year remote behavioral telemetric intervention (TI) that focused on adherence and addressed barriers, to standard of care (SOC). The primary endpoint was the composite incidence of centrally-determined...

CONCLUSIONS: Donor-recipient age difference and body size-related measures showed trends toward association with long-term eGFR in pediatric living donor kidney transplant recipients. However, findings were inconsistent across models. These results are hypothesis-generating and should be interpreted cautiously, warranting larger pediatric studies of donor-recipient age and size matching in long-term graft function.

Kidney allograft failure is a devastating event often marked by return to dialysis and is associated with increased morbidity and mortality. Given the young age at transplant for pediatric recipients, they are likely to require retransplantation during their lifetime. Optimal immunosuppression (IS) management in the setting of a failing allograft is crucial to preserve residual renal function, prevent graft intolerance, and limit the development of anti-HLA antibodies. The management of IS...

Renal fibrosis is a common pathway of chronic kidney injury in children and an important determinant of long-term outcomes in both native and transplanted kidneys. Current assessment relies heavily on biopsy, which is invasive, prone to sampling error, and challenging to repeat in pediatric patients. Magnetic resonance elastography (MRE) is a noninvasive imaging technique that quantifies tissue stiffness and has become an established biomarker for hepatic fibrosis; however, its application to...

CONCLUSIONS: This study confirms that CMN patients have an excellent outcome, with complete surgical resection being curative in the majority of cases. Chemosensitivity is observed in a significant proportion, suggesting that neoadjuvant chemotherapy may be a viable option in selected cases. While age at diagnosis, histological subtype, and survival outcomes are consistent with previous reports, we highlight that recurrences, though infrequent, tend to occur early and are not restricted to the...

Noncirrhotic portal hypertension has historically been described using heterogeneous and region-specific terminology-such as idiopathic portal hypertension (IPH), noncirrhotic portal fibrosis (NCPF), obliterative portal venopathy, and nodular regenerative hyperplasia-leading to substantial variability in diagnosis, reporting, and international research collaboration. Differences in guideline definitions from major societies (AASLD, EASL, and APASL), together with the presence of characteristic...

Non-cirrhotic portal hypertension has historically been described using heterogeneous and region-specific terminology, such as idiopathic portal hypertension (IPH), non-cirrhotic portal fibrosis (NCPF), obliterative portal venopathy, and nodular regenerative hyperplasia, leading to substantial variability in diagnosis, reporting, and international research collaboration. Differences in guideline definitions from major societies (AASLD, EASL, and APASL), together with the presence of...

The composition of the gut microbiota (GM) is altered in solid organ transplantation (SOT) recipients, where the degree of dysbiosis is associated with long-term survival and is believed to be influenced by immunosuppression therapy. At the interface stands secretory (S)IgA, however, little is known about its role in governing dysbiosis in the context of SOT. We performed quantitative metagenomic analyses of the GM accompanied by SIgA sequencing in 48 pediatric SOT recipients (age = 10.6 ± 4.7...

The field of nephrology is rapidly expanding and evolving with advancements in the areas of diagnostics including biomarkers, molecular genetics and imaging modalities, and therapeutics. As acute kidney injury affects a substantial proportion of hospitalized patients with considerable morbidity and mortality risk and chronic kidney disease is among the leading causes of morbidity and mortality globally, the advancements in the field of nephrology are worth focusing on and highlighting. Novel...

CONCLUSIONS: Radiation exposure from medical imaging was low-to-moderate for most pediatric solid organ transplant recipients. Emphasis on optimizing ionizing modalities to reduce radiation dose and the promotion of non-ionizing imaging modalities remains important.

CONCLUSIONS: Among patients receiving dialysis who are diagnosed with localized or regional cancer, the risk of cancer-related death is low and may be exceeded by non-cancer mortality within 1 year of the cancer diagnosis. These findings support consideration of earlier transplantation for some patients with cancer and highlight the need for individualized approaches to defining transplant eligibility.

No abstract

CONCLUSIONS: This study reveals that FMT may exert neuroprotective effects by ameliorating lipid metabolic defects and replenishing precursors of the cholinergic anti-inflammatory pathway (CAP). These findings delineate an ASD-specific gut-kidney metabolic axis, providing a preliminary theoretical basis for precision ASD treatment strategies targeting the microbiota-metabolism axis.

Based on data from large international registries, the clinical presentation of fibromuscular dysplasia (FMD) in adult patients is now well established. By contrast, characteristics of FMD in children and adolescents remain poorly described. We present the first systematic review and meta-analysis focused on pediatric FMD. Seven databases were searched for studies published since 2000. Data were pooled using random-effects models. Subsequently, the characteristics of pediatric FMD patients were...

CONCLUSIONS: Despite concerns related to small caliber vessels and donor/recipient size mismatch, pediatric donors are associated with excellent mid-term outcomes in SPKT recipients and may not represent a contraindication to pancreas utilization in solitary pancreas transplantation.

CONCLUSIONS: Although necessary, the provision of universal health care coverage alone is insufficient to ensure long-term donor health and inform future practice. A new national model of long-term donor follow-up informed by the lived experience of past donors and input from primary care and transplant providers was proposed.

CONCLUSION: This family demonstrates intrafamilial phenotypic variability of TBS but with strikingly consistent renal involvement linked to a familial SALL1 variant. TBS should be considered in patients with congenital anomalies of the kidney and Urinary tract (CAKUT) even in the absence of typical limb or anorectal anomalies. Early molecular diagnosis enables appropriate surveillance and timely management of progressive kidney disease.

The preoperative evaluation and postoperative management of kidney transplantation are fundamentally tailored to the distinct needs of adult and pediatric populations. The pediatric assessment prioritizes growth, congenital anomalies (like CAKUT), neurodevelopmental progress, and achieving pre-emptive transplantation. In contrast, adult evaluation focuses on comprehensive cardiovascular screening, malignancy risk, and managing accumulated comorbidities, with a growing emphasis on frailty...

CONCLUSION: This case series highlights the critical role of unconventional dialysis access methods in resource-constrained settings, where advanced interventional radiology options may be unavailable. While IVC cannulation for haemodialysis is more commonly described in adults, these are the first reported cases of vascath insertion into the IVC in paediatric patients. Additionally, these findings underscore the importance of innovative strategies to manage paediatric CKD in low-resource...

CONCLUSIONS: There is significant variability in practice patterns regarding the management of hypotension in pediatric transplant recipients. This highlights the need for further research to evaluate the prevalence of chronic hypotension in the pediatric ESKD population and to assess its impact on transplant outcomes.

CONCLUSION: Utilization of en bloc kidneys has declined in pediatric recipients but can have good outcomes in a select population. More information is needed to understand whether and how best to use en bloc kidney transplantation for adolescents with reduced access to transplant.

Extracorporeal membrane oxygenation (ECMO) is increasingly being utilized for life-threatening cardiac and/or respiratory failure refractory to conventional treatment. Acute kidney injury (AKI) and fluid balance disorders commonly occur both before and during ECMO, with approximately half of cases receiving treatment with continuous renal replacement therapy (CRRT). Acute kidney injury, fluid balance disorders, and CRRT influence both short- and long-term outcomes in this population. The 36th...

Two areas of overlap between kidney transplantation and oncology that remain fraught with uncertainty and bias are (1) transplant candidacy for elderly patients with historic or active cancers or premalignant conditions, and (2) managing cancer in elderly kidney transplant recipients. These have led to inadvertent inequities in the care of elderly kidney transplant candidates with historic or active malignancies. Incorporating a patient's viewpoint and an oncologist's perspective, we present a...

Genetic testing is becoming a routine-and increasingly time-sensitive-tool in nephrology, with implications for diagnosis, prognosis, targeted therapy, transplant planning, and family counselling. However, many nephrologists remain uncomfortable with genetic concepts in general, and variant interpretation specifically. This gap will increasingly limit their ability to fully leverage genetic testing in routine nephrology care-and to translate results into management decisions that improve patient...

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

CONCLUSIONS: In a modern tacrolimus-based cohort, g+ptc≥2 without DSA was not associated with worse outcomes after adjustment for serial or concomitant TCMR and dnDSA events.

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

BACKGROUND IgA-associated vasculitis (IgAV), although relatively uncommon in adults, is frequently associated with increased vasculitis severity. Sudden abdominal pain and bloody diarrhea are among the usual manifestations of IgAV in children. In older patients, clinical manifestations of the disease may be typical, but advanced age and comorbidities can make the final diagnosis unexpected. CASE REPORT A 67-year-old man with multiple underlying medical conditions, including diabetes mellitus and...

CONCLUSIONS: Increased doses/sessions or additional therapies for rFSGS associated with more favorable outcomes. Non-linear modelling identified when further increases did not improve outcomes.

CONCLUSIONS: This report enriches the limited experience of RNAi-enabled kidney-only transplantation in PH1. RNA interference therapy has the potential to challenge the current standard of dual liver and kidney transplantation in children and young adults with this devastating disease but requires uninterrupted access to the drug with individualized, eGFR and oxalate level adjusted dosing, continued vigilance, and reporting of long-term outcomes.

Despite modest improvement, the lifespan of a child on dialysis continues to be 40 years shorter compared to healthy children. Cardiovascular disease (CVD) is the leading cause of morbidity and mortality in these patients. Risk factors for CVD are present even in early stages of chronic kidney disease (CKD) and accelerate as the child's renal function deteriorates. As a result, the highest burden of CVD exists in patients on chronic dialysis. Although dialysis is life-sustaining, the dialysis...

This is the second article in a 2-part series on survival analysis. In part 1, we discussed the core concepts and traditional methods used in survival analysis. Part 2 explores the novel approaches to predict survival outcomes and evaluate model performance. To facilitate hands-on learning and practical implementation, the R code used in these analyses is provided in the supplementary materials, along with instructions to help readers apply these methods to their data.

CONCLUSIONS: STAT3-HIES is a multisystem disorder that requires multidisciplinary care. Early diagnosis and supportive measures have altered its natural history. Recognition and improved understanding of the nonimmunologic manifestations of this disorder will further improve patient outcomes.

CONCLUSIONS: We suggest a detailed picture of the changes in the kidney immune mechanisms in LN as this disease progresses.

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CONCLUSION: Doppler-derived HBFV parameters may aid in early prognostication after KPE and warrant prospective validation in larger, multicenter cohorts.

CONCLUSIONS: These findings indicate that graft loss associated with DGF, independent of donor characteristics, is limited to the early posttransplant period. Future trials should therefore be cautious in adopting DGF as a primary surrogate endpoint for medium- and long-term graft survival.

Burosumab is effective for treatment of rickets in children with X-linked hypophosphatemia (XLH). The effects of burosumab on markers and regulators of osteoblast and osteoclast acitivity are largely unknown. In this cross-sectional observational study, we investigated 7 key markers and regulators of osteoblast and osteoclast activity in 107 burosumab-treated children with XLH. We calculated z-scores for bone-specific alkaline phosphatase (BAP), procollagen-1-N-terminal propeptide (P1NP),...

No abstract

CONCLUSIONS: Adolescents and young adults with chronic kidney disease and their parents had low awareness of peritoneal dialysis and low levels of engagement in the search for donors. Some barriers were unique to this population and differed from those previously identified among older adults with kidney failure. Providers should be aware of these differences when counseling this younger population on kidney replacement therapy options.

CONCLUSIONS: Many ideal pediatric-quality kidneys are allocated to adults, primarily multiorgan transplant recipients. We anticipate no meaningful change in the proportion of ideal pediatric-quality kidneys prioritized for children using the revised KDPI-8 calculation.

Circulating anti-nephrin antibodies have recently been identified as mediators in many cases of childhood nephrotic syndrome. After binding of the antibody to nephrin, a key component of the slit diaphragm, different intracellular signaling mechanisms lead to foot process effacement. These new insights into the pathophysiology of nephrotic syndrome may have the potential to influence clinical treatment strategies. First, the measurement provides a pathomechanism-specific serological biomarker of...

CONCLUSIONS: EV proteomics is a promising approach for detecting and monitoring AR in PKT recipients and warrants larger multicenter studies.

Cyclosporine levels vary considerably in several case reports and series. This variability may be partially due to inconsistent sampling times among the reports and probably related to the fat content of the milk at the time of sampling. With typical maternal cyclosporine blood levels, a completely breastfed infant would usually receive no more than about 2% of the mother's weight-adjusted dosage or pediatric transplantation maintenance dosage, and often less than 1%. In most breastfed infants,...

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

CONCLUSION: Approximately 60% of pediatric membranous cases are positive for a novel antigen on kidney biopsy and the clinical prognosis is generally favorable. More studies are needed to understand the clinical implications of each specific novel antigen.

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.

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.

Macrophage activation syndrome (MAS) is driven by a hyperinflammatory response characterized by aberrant activation of lymphocytes and phagocytes. While monocytes and macrophages are thought to be important in MAS pathogenesis, their role remains poorly understood. We used bulk and single-cell RNA sequencing (RNA-Seq) on sorted monocytes from children with MAS and healthy controls to identify transcriptional changes during MAS. We defined a MAS signature in classical monocytes that correlated...

Thrombotic microangiopathy (TMA) is a rare but serious complication of systemic lupus erythematosus (SLE) in children, which is often resistant to different medical treatments. This is the report of a 13 years old female with a newly diagnosed SLE, complicated with a refractory course of SLE-TMA. Eculizumab had an effective therapeutic impact with clinical and laboratory improvement of TMA.

CONCLUSIONS: Caregivers of children with cSLE face substantial psychological distress, with threat perception and negative coping as key modifiable correlates. Interventions to reshape cognitive appraisal and promote adaptive coping, alongside expanded health insurance coverage and optimised caregiving role distribution, are needed to alleviate caregiver burden.

CONCLUSION: FKBP4 polymorphisms may modulate the therapeutic response in pSLE, potentially influencing GC receptor function. rs11833878 was linked to improvements in PLT, SLEDAI-2K score, and proteinuria, whereas rs41456246 was associated with WBC, GC dosage, and PLT recovery. Genotyping these loci may serve as a valuable reference for developing personalized treatment strategies.

CONCLUSION: This study identified nine significant AD-HL associations, emphasizing the need for targeted screening and management of HL in individuals with AD.

CONCLUSIONS: Cross-sectional OCT anatomy in HCQ-exposed children was normal at age 5 with no evidence of toxicity, providing further reassurance that HCQ use during pregnancy does not result in retinal toxicity in the offspring.

CONCLUSIONS: Belimumab combined with conventional therapy may enhance NK cell counts, improve serological and clinical outcomes, and facilitate steroid tapering in cSLE. Further prospective controlled studies are needed to confirm these findings.

Haploinsufficiency of A20 (HA20) is a primary immune regulation disease caused by heterozygous loss-of-function variants in TNFAIP3, resulting in unchecked inflammatory signaling. HA20 is a highly heterogeneous disorder with overlapping features of autoinflammation, autoimmunity, immunodeficiency, atopy, and lymphoproliferation. Most patients develop symptoms in early childhood mimicking Behcet's disease, inflammatory bowel disease, periodic fevers with aphthous stomatitis, pharyngitis, and...

BACKGROUND: Libman-Sacks endocarditis (LSE) is a noninfective thrombotic endocarditis frequently associated with antiphospholipid syndrome (APS) and/or systemic lupus erythematosus. Valvular obstruction, if it occurs, may require urgent surgery.

Systemic lupus erythematosus (SLE) is an autoimmune disease marked by diverse clinical manifestations and profound immune dysregulation. Among the immune cells implicated in SLE pathogenesis, double-negative T (DNT) cells, a unique subset of CD3^(+) T lymphocytes that lack both CD4 and CD8 co-receptors, have emerged as important and context-dependent contributors to disease progression. Pathogenic DNT cells are markedly expanded in SLE patients and disrupt immune tolerance by promoting the...

Transposable elements (TEs) make up almost half of the human genome and are among its most densely methylated regions. Their epigenetic silencing is crucial for genomic stability and immune homeostasis, and accumulating evidence indicates that dysregulated TE methylation and expression contribute to autoimmune disease pathogenesis. Hypomethylation of selected TE families can permit transcriptional reactivation, production of immunostimulatory nucleic acids and peptides, and engagement of...

CONCLUSION: Vitamin D deficiency was prevalent in newly diagnosed c-SLE and was associated with LN, proteinuria, and moderate to high disease activity.

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CONCLUSIONS: BAFF inhibition in paediatric LN is associated with rebalancing of innate and adaptive immunity through enhancement of Breg function and suppression of ILC1-driven inflammation.

Genetic contributions to systemic autoimmunity are often considered more significant in children than in adults. As such, genetic evaluation may be more frequently pursued in pediatric rheumatology patients. Motivated by the discovery of a STING-associated vasculopathy with onset in infancy (SAVI) mutation in a patient with adult-onset relapsing polychondritis and systemic lupus erythematosus, we hypothesized that STING gain-of-function mutations might underlie a broader spectrum of autoimmune...

CONCLUSIONS: MMF and CYC had similar efficacy as initial therapies for pLN. RTX may augment long-term response. However, response rates were suboptimal. Large variations in initial therapy were observed. Given the paucity of prospective data in pLN, our study further illustrates the need for data-driven, pediatric-specific protocols to standardize care and improve outcomes.

Dysregulated B lymphocyte activation plays a pivotal role in the pathogenesis of systemic lupus erythematosus (SLE), making it a promising target for therapeutic intervention. Chimeric antigen receptor T cell (CAR-T) therapy, specifically targeting CD19-positive B cells, has shown potential in selectively eliminating aberrant B cells, offering a path toward sustained remission and even complete eradication of SLE. However, the broad immunosuppressive effects and cytotoxicity associated with...

CONCLUSIONS: Hypogammaglobulinemia is common in refractory LN. Belimumab treatment may increase the possibility of IgG reduction and the risk of infection. Pediatric patients with LN whose serum IgG levels are below 4 g/L always receive IVIG replacement therapy because of infection. In patients treated with belimumab, monitoring IgG levels is necessary, and IgG replacement therapy should be more aggressive.

Lupus nephritis (LN) represents one of the most severe manifestations of childhood systemic lupus erythematosus (cSLE), often progressing rapidly and resulting in renal impairment or even end-stage renal disease. Early diagnosis and precise assessment of disease activity are essential for guiding therapy and improving clinical outcomes. However, conventional serological and urinary biomarkers exhibit limited sensitivity and specificity, while renal biopsy, although the diagnostic gold standard,...

CONCLUSION: GPIHBP1 autoantibody-related HTG is important and potentially treatable severe pediatric HTG, representing an early manifestation of autoimmune dysregulation that requires an accurate diagnosis and longitudinal surveillance.

CONCLUSION: Skin manifestations often present as the initial complaint in pediatric rheumatic diseases. A thorough cutaneous examination is crucial for identifying the underlying systemic conditions and guiding appropriate management.

Lupus nephritis (LN) stands out as one of the most critical complications of systemic lupus erythematosus (SLE), affecting almost 60% of the patient population. Even though more therapies have been made available for LN in the past decade, clinical outcomes remain less than ideal: nearly 10% to 30% of LN cases still advance to end-stage kidney disease (ESKD), still making the management of LN a clinical challenge. Therefore, the primary aim of treatment of LN is simple: to halt the progression...

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CONCLUSIONS AND RELEVANCE: This study identified novel autoantibody signatures for atherosclerosis progression and statin response in JSLE, with potential utility for precision medicine approaches for CVD-risk management.

CONCLUSION: Associations of SLEDAI-2K domains with damage accrual were variable and were discordant with domain weightings. Alternative weighting strategies for disease activity instruments could improve their prognostic utility.

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CONCLUSION: In pediatric SLE, add-on belimumab improves disease control and safety at 6 months and reduces flare risk at 12 months compared with standard immunotherapy.

Systemic lupus erythematosus (SLE) is an autoimmune disease that predominantly affects women of childbearing age, and active disease during pregnancy is associated with increased maternal and fetal morbidity. Belimumab is an effective biologic therapy for active SLE; however, its use during pregnancy has long been limited by the scarcity of safety data. Recent evidence and updated international recommendations suggest that belimumab may be considered in selected cases when required to maintain...

PFAS are a group of persistent organic pollutants, that bioaccumulate and are associated with negative health effects. Reviews have suggested that the most critical effects of PFAS are on the immune system, but little is known of effects on development of autoimmunity. Our objective was to map and summarize available evidence concerning exposure to any PFAS and development/presence of autoimmunity, in humans and animals. We assessed studies reporting potential associations between PFAS exposure...

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CONCLUSION: Brain injury marker levels were high and associated with disease activity and CD in this cSLE adolescent cohort, suggesting a link between systemic inflammation and clinically under-detected neuronal/glial injury. Larger, longitudinal studies should explore the potential clinical utility of brain injury markers for clinical assessment of brain involvement in cSLE.

Kikuchi-Fujimoto disease (KFD), also known as histiocytic necrotizing lymphadenitis, is a rare idiopathic inflammatory disorder characterized by low incidence and a propensity for misdiagnosis. Although its etiology remains elusive, KFD is often linked to underlying autoimmune conditions. Definitive diagnosis requires lymph node biopsy. Classically, patients present with cervical lymphadenopathy and fever; however, this report describes an atypical, severe manifestation in a patient whose...

CONCLUSION: ACEs exposure was prevalent in this cSLE cohort, associated with NPSLE diagnosis, disease damage and comorbid psychiatric diagnoses. These findings suggest that early-life stressors may contribute to cSLE morbidity, particularly neuropsychiatric features, emphasising the importance of addressing psychosocial issues in the context of medical care.

CONCLUSION: Our findings suggest that women with chronic hypertension who have evidence of fetal growth restriction at 35-36 weeks' gestation (but not those with only an estimated fetal weight <10th percentile) more frequently develop maternal manifestations of superimposed preeclampsia and should be considered for enhanced maternal and fetal surveillance. These findings should be replicated at earlier gestational ages.

CONCLUSION: These evidence-based, locally adapted guidelines aim to standardize and optimize the management of cLN in Saudi Arabia, improving early diagnosis, guiding treatment selection by LN class, and promoting supportive strategies to enhance renal outcomes, survival, and quality of life.

CONCLUSIONS: This study found that jSLE mainly affects female patients, with musculoskeletal, renal, and hematologic involvement being the most common manifestations. Renal involvement is associated with initial anti-dsDNA positivity and SLEDAI-2K scores. The study also found that better remission outcomes are linked to lower initial disease activity and longer follow-up periods.

Systemic lupus erythematosus (SLE) is a heterogeneous autoimmune disorder characterized by chronic inflammation, oxidative stress, and multi-organ damage, with lupus nephritis (LN) constituting a major cause of morbidity and mortality. Dysregulated iron metabolism and insufficient expression of heme oxygenase-1 (HO-1), a pivotal antioxidant enzyme regulating iron homeostasis and immune responses, have been implicated in LN pathogenesis. However, therapeutic strategies targeting HO-1 and iron...

CONCLUSION: The JIR-CliPS network has achieved broad international physician participation. Thanks to the knowledge gathered, a library with CliPS adapted to various local and country-specific constraints is currently under development, bridging the gap between published recommendations and achievable everyday practice. This robust methodology ensures a comprehensive and globally representative dataset for future disease-specific publications.

Pediatric neurological autoimmune diseases (PNADs) are a result of immune system abnormalities that target the central and peripheral nervous systems, leading to various neurological dysfunctions in children. The limitations of current immunotherapies underscore the necessity for more efficacious treatment interventions. The objective of this review is to examine the fundamental principles, recent advancements, and clinical applications of chimeric antigen receptor (CAR) T cell therapy in the...

CONCLUSION: Neurological involvement affects at least one-quarter of children with lupus nephritis and may be underdiagnosed. Systematic, standardized screening is essential for early detection and tailored treatment.

Autoantibody flares are important drivers of pathology in systemic lupus erythematosus (SLE), highlighting the pivotal role of B cells in initiating and propagating chronic autoimmunity. Although autoreactive specificities are a normal feature of the naive B cell repertoire, these cells are normally suppressed by layered tolerance checkpoints that limit inappropriate activation. Autoimmune-prone environments can lower these tolerance thresholds, rendering naive autoreactive B cells more...

We studied 132,525 Danish general population individuals to examine whether risk of osteoarthritis and/or use of pain-relieving medication was increased in haemochromatosis C282Y homozygotes with normal or low plasma iron, transferrin saturation, or ferritin. We genotyped all 132,525 individuals for the HFE C282Y and H63D variants. During a median follow-up of 40 years, 31,636 individuals had osteoarthritis. Risk of osteoarthritis was increased even in C282Y homozygotes with normal or low plasma...

CONCLUSION: These changes in therapy reflect increased knowledge in autoimmune diseases during pregnancy, with a more consistent number of women able to have and carry a pregnancy despite their disease severity. Over the years, our center had offered the best therapeutic management to achieve a good obstetrical outcome and minimize the incidence of obstetrical complications.

COPA (coatomer protein complex subunit α) syndrome is a rare inborn error of immunity associated with constitutive activation of type I interferon signaling. Organ inflammation and damage (eg, lungs, kidneys, joints) usually develops early in life. Kidney involvement occurs in a subset of COPA syndrome patients, with the potential for rapid progression to kidney failure. Through an international collaboration, we identified COPA syndrome patients who developed kidney failure and underwent a...

CONCLUSIONS: Weight negatively impacts body esteem in adolescents with rheumatic conditions, particularly those with SLE. Findings underscore the need for targeted interventions addressing weight-related HRQOL in this population.

CONCLUSION: Paediatric rheumatic diseases can present as life-threatening emergencies, frequently as the first manifestation of illness. Systemic lupus erythematosus was the most common underlying diagnosis in our cohort. Early recognition and timely initiation of immunosuppression may improve outcomes.

CONCLUSION: Autoantibody-based stratification effectively delineates two cSLE subgroups with distinct genetic, immunological, and clinical trajectories. The anti-Sm/RNP positive subgroup, defined by HLA-DRB1*15/09 risk alleles and a high IFN-α signature, represents a more severe phenotype with a higher risk of flare, potentially explaining the suboptimal response to belimumab in this group.

Traditional treatment regimens for rheumatism and autoimmune diseases are associated with significant adverse effects, and some patients have a limited response, leading to poor prognosis. Telitacicept, a biologic agent and fusion protein targeting B cell activating factor (BAFF) and a proliferation inducing ligand (APRIL), offers a novel therapeutic strategy for refractory rheumatism and autoimmune diseases. Clinical trials have shown promising efficacy and safety. In systemic lupus...

Identification of a heterozygous P2RY8 E323G substitution in a father and son with cutaneous lupus and enhanced type I interferon signaling supports a role for P2RY8 in lupus causation and highlights the overlap between Mendelian disease and complex genetic susceptibility.

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

This article highlights how age and type 1 diabetes interact to shape clinical onset and treatment, emphasizing the need for tailored strategies in classifying and managing type 1 diabetes across the lifespan, particularly in later life. This article represents an expert perspective based on selected literature. In considering type 1 diabetes in adults, distinction is needed between incident cases, where biological age influences underlying pathophysiology, and prevalent cases, capturing both...

CONCLUSIONS: This study provides valuable insights into the risk factors for AKI development in children with CHD following their cardiac surgery. These factors should be addressed in this patient population to reduce the risk of AKI and its following complications.

Improving Continuous kidney replacement therapy (CKRT) Outcomes in Neonates and Infants Through Interdis ciplinary Collaboration (ICONIIC) is a multicenter quality improvement and research registry. We aimed to identify programmatic structures and educational practices for neonatal and infant CKRT. A survey focusing on care delivery and models, units offering therapy, staff-to-patient ratios, and education protocols was distributed to institutions in ICONIIC using the Carpediem machine. Of the...

CONCLUSION: This study provided some valuable insights into the clinical and genetic characteristics of WD in southwestern China, enhanced the understanding of genotype-phenotype correlations, and emphasized the importance of early diagnosis and personalized management.

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

CONCLUSION: This simple survey revealed that definitive diagnosis of PH occurs at older age accompanied with higher rate of kidney transplantation.

Cystinosis is a rare lysosomal disease affecting all organs. The outcome and the quality of life varies depending on the early diagnosis, patient adherence to medication, and regular follow up. There is lack of enough evidence about cystinosis patients in Iran. In this review, we are going to find the incidence and prevalence, the age at diagnosis, clinical presentation, the comorbidities, and the outcome of disease in Iranian children. We searched all available database of Iran published...

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CONCLUSIONS: ELGANs who do not lose 5-7% of BW by postnatal day 3 or exhibit an average day-to-day weight fluctuation > 5% of BW are at increased risk of early mortality. These weight-derived metrics may support early risk stratification but require prospective validation.

CONCLUSION: Vitamin D deficiency appears to be more common in children with recurrent UTI. Vitamin D supplementation significantly increased serum vitamin D levels and was associated with a reduction in recurrent UTI frequency based on a pre-post comparison within the patient group. Correcting vitamin D deficiency and maintaining adequate levels may be a simple and effective method for preventing recurrent UTI in school-aged children.

CONCLUSION: Despite generally positive attitudes and moderate practices toward HUA management, internal medicine physicians demonstrated suboptimal levels of knowledge, which may limit the effectiveness of clinical decision-making. Targeted educational interventions may help address these knowledge gaps and potentially improve evidence-based HUA management.

CONCLUSIONS: PD displays substantial environmental impact variability across centres, driven by differences in material consumption, waste management, energy sourcing, and clinical protocols. Cleaner energy profiles, effective waste management, and reduced reliance on single-use consumables may lower environmental burdens. These findings underscore the importance of integrating environmental performance into clinical decision-making and health system planning.

CONCLUSION: Our findings underscore the importance of careful monitoring of serum sodium levels during PICU admission to improve clinical outcomes. These results should be interpreted in light of the retrospective design and the unavailability of standardized illness-severity scores (e.g., PRISM or PIM) in the dataset.

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Patients with extremely rare pathogenic variants pose unique challenges to current healthcare systems. Nano-rare mutations have been defined as mutations with a known prevalence of <30 patients worldwide, but because of the small fraction of humans who have undergone genetic testing, neither the precise prevalence of individual mutations nor the total prevalence of patients with nano-rare mutations is known. n-Lorem is a non-profit founded in 2020 with the mission of equitably discovering,...

CONCLUSIONS: Extrarenal involvement was associated with increased morbidity and mortality and a non-negligible prevalence of long-term sequelae. These findings highlight the importance of screening for extrarenal complications and sequelae during long-term follow up.

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

CONCLUSIONS: Even though FD patients were promptly treated, severe clinical events occurred in about 30%, mainly classic males, highlighting the need for sensitive tools assessing outcomes and novel therapeutic options.

CONCLUSIONS: In children with IgAVN, crescent formation is associated with a more severe clinicopathological phenotype and should be interpreted in the context of coexisting active and chronic kidney lesions. Kidney biopsy remains essential for defining crescent-related lesions.

CONCLUSIONS: The modified PRO-Kid tool is acceptable as a PROM for assessment of symptoms related to CKD for 2-7-year-old children.

CONCLUSIONS: Lower admission iCa levels are independently associated with higher 28-day mortality in pediatric sepsis, particularly in the early phase of illness. As a rapid and routinely available biomarker, iCa may enhance early risk stratification in critically ill children with sepsis.

CONCLUSION: Electrolyte abnormalities are common among individuals with eating disorders and are associated with adverse health outcomes.

Over the past decade, advances in neonatal nephrology have expanded the ability to provide kidney replacement therapy to increasingly smaller and more medically complex infants. The development and adaptation of devices designed specifically for infants have facilitated safer delivery of continuous kidney replacement therapy (CKRT), with reduced extracorporeal circuit volumes, smaller filters, lower blood flow requirements, and improved precision of fluid balance. As a result, CKRT use in...

Renal tubulointerstitial fibrosis (TIF) is a central pathological feature driving the progression of chronic kidney disease (CKD) toward end-stage renal failure. Despite advances in understanding fibrotic mechanisms, effective anti-fibrotic therapies remain limited. Here, we identify SPARC, a matricellular protein expressed in proximal tubular epithelial cells (PTECs), as a key mediator of TIF. SPARC expression strongly correlates with fibrosis severity in both human CKD biopsies and murine...

CONCLUSION: In this post hoc analysis of pediatric patients with FSGS, sparsentan was generally well tolerated and clinically meaningful reductions in proteinuria were observed, consistent with the overall DUPLEX population.

Nephronophthisis is an autosomal recessive ciliopathy and a major genetic cause of end-stage kidney disease in children and young adults. Although next-generation sequencing panels have improved diagnostic yield, some patients remain genetically unresolved, partly due to deep intronic variants that disrupt pre-mRNA splicing and are not captured by exon-focused approaches. We report a 13-year-old boy who presented with advanced kidney dysfunction, small renal cysts, and kidney histopathology...

CONCLUSION: This integrative analysis highlights biological pathways and proteins that may reflect kidney and urinary tract injury and dysfunction in a pilot cohort of boys with PUV. These initial findings warrant further testing in longitudinal studies with larger cohorts to link the urine proteome to clinically relevant kidney and bladder outcomes.

CONCLUSIONS: Fecal carriage of ESBL-producing E. coli is strongly associated with ESBL-positive UTIs, supporting the role of intestinal colonization in infection pathogenesis.

CONCLUSIONS: Donor-recipient age difference and body size-related measures showed trends toward association with long-term eGFR in pediatric living donor kidney transplant recipients. However, findings were inconsistent across models. These results are hypothesis-generating and should be interpreted cautiously, warranting larger pediatric studies of donor-recipient age and size matching in long-term graft function.

CONCLUSIONS: Children on hemodialysis experience measurable albumin and amino acid losses. These findings suggest that such losses may contribute to protein-energy wasting and impaired growth, highlighting the potential importance of individualized dialysis prescriptions and nutritional strategies in pediatric patients.

CONCLUSION: Despite substantial progress since 2000, neonatal mortality from birth asphyxia/trauma and prematurity remains persistently high, particularly in Africa, but scenario analyses suggest that substantial reductions could be achieved if future declines follow trajectories observed in the best-performing settings.

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Background: In chronic kidney disease (CKD) treatment, a holistic approach, which involves not only nephrologists but also nutritionists, sports physicians, and kinesiologists, is becoming increasingly important, characterized as including not only pharmacological therapy but also integrative treatments, i.e., nutritional therapies (like low protein diet-LPD) and adapted physical exercise (APE) programs. The aim of this study was to evaluate the potential adjuvant therapeutic role of an...

CONCLUSIONS: This study suggests that paternal vitamin D deficiency may reshape the oxidative stress and fibrosis-related pathways in offspring's testes accompanied by altering sperm miRNA-mediated epigenetic information.

All eukaryotes share a single-celled ancestor from ∼1.5 to 1.8 billion years ago, the so-called last eukaryotic common ancestor (LECA). Roughly half of gene families found in modern eukaryotes were already present in LECA, forming molecular systems that continue to influence genetic diseases and traits today. To investigate these systems, we compared genes across 156 organisms to define a core set of protein-coding gene families likely present in LECA, with a quarter remaining uncharacterized....

Hypertension affects approximately 1.4 billion people worldwide. It is worth noting that it is also found in approximately 4% of children, with about half of pediatric patients having primary hypertension. Despite its widespread prevalence, the pathogenesis of primary hypertension remains poorly understood. Among the many hypotheses, research into epigenetic factors, primarily microRNA, has gained momentum in recent years. The role of microRNA is to bind to mRNA and thus influence protein...

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BACKGROUND: Health guidelines play a central role in informing clinical practice, public health measures and health policy. But their trustworthiness may be undermined by factors such as insufficient methodological rigour, lack of transparency, conflicts of interest (COI), and inconsistent application of established standards. Existing appraisal tools address selected aspects of guideline quality but do not comprehensively assess the trustworthiness of individual recommendations, nor do they...

RATIONALE: Steroid-sparing strategies aim to reduce the adverse effects associated with steroid use. The main concern has been a potential increase in the risk of rejection, as reported in previous systematic reviews. In recent years, improvements in immunosuppressive regimens and a significant decline in the incidence of acute rejection have renewed interest in steroid-sparing strategies. More contemporary trials suggest that reducing steroid exposure might be safe. This is an updated review,...

Systemic Glucocorticoid (GC) therapy is integral to managing various paediatric conditions, including inflammatory muscle and neuromuscular diseases. However, prolonged GC use in children poses a significant risk for severe ocular Adverse Drug Reactions (ADRs), notably Posterior Subcapsular Cataract (PSCC) and Steroid-Induced Ocular Hypertension (SIOH). These ADRs can lead to irreversible visual impairment, creating a substantial burden, particularly for paediatric patients already managing...

CONCLUSION: For the management of multi-campus hospitals, more attention should be paid to the waiting time, responsiveness of patient needs, doctors' diagnosis, advice on treatment plan, assistive medical technology service, and attitude of doctors in both campuses. In addition, hospital managers should focus on the service group as well as the initial settings in the new campus, while considering the substantial investment in infrastructure in the main campus.

CONCLUSIONS: This nationwide survey provides updated epidemiological estimates of ADPKD. Although registry data on KRT may not exclusively represent ADPKD, our findings suggest a higher disease burden than previously recognized, with prevalence consistent with estimates reported in other countries.

CONCLUSIONS: This study integrates prospective psychosocial, proteomic, and cognitive data to demonstrate that systemic inflammation partially mediates the long-term impact of early-life stress on midlife cognitive function. These findings highlight inflammation as a potential biological pathway linking early adversity to adult brain health.

CONCLUSION: In sJIA, immediate intensive IL-1/IL-6 therapy at diagnosis is more effective than a step-up approach in achieving and maintaining CID/remission, while also having an acceptable safety profile, supporting the initial "target-to-treat (T2T)" strategy. Future prospective studies and biomarker-stratified validation of each strategy are needed.

CONCLUSION: Although there was no significant difference in postoperative opioid consumption between groups, the QL/RS block group was associated with the shortest time to extubation, with all patients extubated in the operating room. All block groups had reduced overall hospital LOS compared to the no block group. Both QL/RS and TAP blocks may offer benefits in perioperative recovery, warranting further prospective investigation to optimize regional anesthesia strategies for pediatric renal...

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This report presents the case of a 60-year-old woman who was admitted with symptoms of fatigue and poor appetite. Laboratory investigations revealed severe acute kidney injury (AKI), indicated by a serum creatinine level of 2,065 μmol/L, necessitating the initiation of emergency hemodialysis. The patient also exhibited hemolytic anemia (hemoglobin, 69 g/L), thrombocytopenia (platelet nadir, 45 × 10⁹/L), venous thrombosis, a positive direct antiglobulin test (DAT), and a low absolute reticulocyte...

CONCLUSION: Uveitis may present with an insidious clinical course in patients with JIA. Particularly, early onset of the disease, female gender, positive ANA status, and articular relapses should be considered warning signs for uveitis.

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

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

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

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

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

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

CONCLUSION: This real-world study suggests a potential nephroprotective role of SGLT2i in adult patients with AS, including heterozygous COL4A3/COL4A4 carriers. Benefits appeared independent of baseline BMI and renal function, supporting consideration of earlier initiation. Prospective studies are required to validate these findings and refine treatment timing.

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

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

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

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

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

CONCLUSION: These cases highlight the need for interdisciplinary collaboration between pediatric nephrologists, dental specialists and geneticists, to ensure that patients receive timely renal evaluation. The identification of elevated FGF-23 levels in FAM20A-related ERS with severe nephrolithiasis and hypophosphatemia raises the question of the interest of burosumab as targeted therapy.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Existing guidelines for systemic lupus erythematosus (SLE) predominantly focus on common and major organ involvements. An international taskforce involving experts from three SLE expert groups (ie, the European Reference Network on Rare and Complex Connective Tissue and Musculoskeletal Diseases, the Systemic Lupus Erythematosus International Collaborating Clinics group, and the European Lupus Society) was established. A total of 119 participants contributed to the development of consensus...

CONCLUSION: Our study shows unique clinical and genetic correlations of TRPC6-AP, which may enable personalized care and promising novel therapies.

CONCLUSION: In our cohort, children's DDS clinical trajectory was associated with exon localization. In the era of genomic newborn screening, depicting genetic risk is of utmost importance for personalized patient care.

CONCLUSIONS: ChatGPT exhibited substantial potential in addressing patient inquiries regarding rare kidney diseases in a real-world context. While it demonstrated resilience against misinformation in this application, careful human oversight remains essential and indispensable.

CONCLUSIONS: This SLR provides up-to-date evidence to guide the 2024 update of the European Alliance of Associations for Rheumatology recommendations for the use of antirheumatic drugs in reproduction, pregnancy, and lactation.

BACKGROUND: Although terminal complement inhibitors transformed the prognosis of atypical haemolytic uraemic syndrome (aHUS) from dismal to favourable, treatment approaches vary due to the intermittent disease nature and high costs. Occasionally, complement inhibition is applied in infectious (i)HUS. We aimed to examine real-world C5 inhibitor use and its impact on patient outcomes.

Acute leukemias represent the first cause of cancer in children. Their prognosis has improved significantly due to remarkable advances in therapeutic management, despite the risk of long-term consequences, especially for patients who underwent allogenic hematopoietic stem cell transplantation (aHSCT). Through the Leukemia in Children and Adolescents (LEA) long-term follow-up cohort (clinicaltrials gov. Identifier: NCT01756599), we conducted a French national multicenter prospective study on the...

CONCLUSIONS: In this multicentric cohort of AFD patients, several ECG parameters showed significant changes during follow-up. Only P(end)Q interval showed a significant interaction with treatment status. Moreover, P(end)Q interval, new RBBB and pathologic QTc development were associated with cardiac hypertrophy progression.

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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...

We report here the case of a 16-year-old girl with chronic kidney disease, where biopsy revealed tubulointerstitial nephropathy with granulomas. Initial treatments included immunosuppressive therapy unless genetic testing with exome sequencing identified nephronophthisis due to a homozygous deletion of the NPHP1 gene, marking a unique instance of granulomatous nephropathy related to nephronophthisis. With severe kidney damage, her function has not recovered, necessitating peritoneal dialysis and...