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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.

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.

CONCLUSION: While children and adults demonstrate comparable long-term kidney survival, elderly patients face significantly worse outcomes due to advanced chronicity and systemic damage. These findings highlight the need for tailored interventions in late-onset LN. Older-onset LN, in fact, was an independent predictor of CKD or death together with AKD, arterial hypertension, SLICC >0, and no remission at 1 year.

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...

A renal cyst is the most common lesion of the kidney. Renal cysts are so ubiquitous that they are present in approximately 40% of the patients undergoing imaging. Cystic renal disease can be focal, multifocal, unilateral, or bilateral. Renal cysts can be acquired or the result of a congenital disease process. The acquired form is the most common.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

CONCLUSION: In Chad, childhood idiopathic nephrotic syndrome predominantly affects young males; steroid sensitivity is as high as 95%, and in the long-term, 80% of patients achieve remission with normal renal function.

CONCLUSION: MMC-related CKD is common in childhood in Turkey. A proactive approach to neurogenic bladder management and early protective surgery in selected cases where conservative treatment has failed should be implemented to prevent progressive kidney failure in the pediatric MMC population in our country.

CONCLUSIONS: Children with CKD exhibit a marked and progressive decline in EF1 with falling eGFR. This suggests that EF1 is a more sensitive marker of LV dysfunction when compared to other structural or functional measures and that early LV systolic function is a key feature in the pathophysiology of cardiac dysfunction in CKD.

Glomerular diseases are common causes of chronic kidney disease in childhood, adolescence, and adulthood. The epidemiology of glomerular diseases differs between different age groups, with minimal change disease being the leading cause of nephrotic syndrome in childhood, while membranous nephropathy and focal segmental glomerulosclerosis are more common in adulthood. IgA vasculitis is also more common in childhood. Moreover, there is a difference in disease severity with more children presenting...

CONCLUSIONS: Acute kidney injury associated with hemoglobin cast nephropathy is an extremely rare condition in childhood. Although the initial course is severe and potentially life-threatening, the prognosis is favorable with the treatment of the underlying cause and management of AKI. Therefore, pediatricians should be aware of this rare clinical entity during clinical practice.

Aim Nephrotic syndrome is the most common childhood glomerular disorder, but data on the associated complications are limited and predisposing risk factors have not been fully defined. The aim of this study was to evaluate disease- and treatment-related acute and chronic complications in patients with childhood idiopathic nephrotic syndrome (INS), and to identify the risk factors involved in the development of complications. Methods This single-center study was performed at the pediatric...

Diffuse midline gliomas (DMG) are the most aggressive brain tumors of childhood and young adults, with documented 2-year survival rates <10%. Treatment failure is due in part to the function of the BBB. Intratumoral microdialysis sampling is an effective tool to determine brain entry of varied agents and could help to provide a better understanding of the relationship of drug permeability to DMG treatment responsivity. This is a non-randomized, single-center, phase 1 clinical trial. Up to seven...

CONCLUSIONS: Children and young adults with SCD kidney failure have significantly higher mortality when matched to non-SCD kidney failure children and experience a longer mean time to kidney transplant.

CONCLUSION: Childhood kidney disease contributes significantly to hospitalisations at our institution with highest mortality among children with ESKD. The study highlighted the need for provision of essential drugs and kidney replacement therapy for children with kidney disease at our institution.

Nephrotic syndrome (NS) is a clinical entity characterized by proteinuria, hypoalbuminemia, and peripheral edema. NS affects about 2-7 per 100,000 children aged below 18 years old yearly and is classified, based on the response to drugs, into steroid sensitive (SSNS), steroid dependent, (SDNS), multidrug dependent (MDNS), and multidrug resistant (MRNS). Forms of NS that are more difficult to treat are associated with a worse outcome with respect to renal function. In particular, MRNS commonly...

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

CLINICAL CHARACTERISTICS: 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...

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

CONCLUSION: Most patients were steroid sensitive, with minimal change being the most common. Focal segmental glomerulosclerosis was the predominant histopathology in the steroid-resistant cases. SRNS patients had worse outcomes, with more infections, CKD, and ESKD.

Focal segmental glomerulosclerosis (FSGS) is a histopathological lesion characterised clinically by nephrotic range proteinuria and frequently progresses to end-stage kidney disease. Primary FSGS is a complex disease process hypothesised to result from circulating permeability factors resulting in podocyte injury. Glucocorticoids remain the cornerstone of immunosuppressive treatment in the disease; however there is emerging evidence that FSGS may be autoantibody-mediated, and patients may...

The association between glomerular diseases and malignancies has been recognized since the 1920s. A diverse spectrum of glomerular lesions can occur in various neoplasms, including both hematologic malignancies and solid tumors. This study presents a case series of paraneoplastic nephrotic syndrome (PNS) associated with three solid tumors: ovarian cancer, pancreatic neuroendocrine tumor (NET), and bladder cancer. The occurrence of PNS is rarely reported in association with these malignancies....

CONCLUSION: Close monitoring should be provided to patients with a procoagulant status due to nephrotic syndrome, as well as to those at additional risk from corticosteroid treatment.

We report two cases of non-genetic transient congenital nephrotic syndrome (CNS) in neonates, both presenting with hydrops fetalis associated with nephrotic range proteinuria and significant hypoalbuminemia. Investigations did not reveal any underlying genetic cause or congenital infection to explain the nephrotic syndrome. Both cases received supportive therapy and showed spontaneous recovery with resolution of proteinuria and normalization of serum albumin in a few weeks. These cases...

CONCLUSIONS: CsA effectively reduced nephrotic-range proteinuria in genetically confirmed NPS, suggesting the therapeutic potential of calcineurin inhibitors in for NPS-associated nephropathy.

CONCLUSION: Intra-renal involvement in PAPS is rare but heterogeneous, encompassing both vascular and glomerular pathologies. These findings support the need for heightened renal surveillance in PAPS, even in the absence of classic thrombotic manifestations, and highlight the importance of histologic assessment to guide tailored therapy. From a nephrologist's perspective, routine screening for aPL in glomerular disease assessment may be relevant particularly by providing prognostic value for...

Minimal change disease (MCD) is a glomerular disorder, which is the most common cause of nephrotic syndrome in children. Additionally, the prevalence of MCD in adults has been increasing in recent years. During protein synthesis, noncoding RNAs can be regulated through a variety of modifications, which helps preserve biological diversity and complexity. This study aims to investigate the role of m5C-modified miRNAs in MCD, with the goal of identifying promising biomarkers and therapeutic targets...

CONCLUSIONS: Children with bilateral kidney absence can recover from prolonged hypotension; however, this condition is associated with an increased risk of neurologic complications. Careful monitoring and supportive strategies, including approaches reported to be associated with recovery such as Angiotensin II or fluid overload, may help minimize risk.

CONCLUSIONS: Different clinical presentations, prognosis and clinical outcomes were identified in SLE patients with CMV infection. After treatment with antiviral therapy, symptomatic CMV infection was associated with the best prognosis. CMV disease was associated with worst prognosis. CMV infection coexisting with active SLE was the most common type of CMV infection in active SLE. This group was associated with variable prognosis according to the clinical context.

Following bee stings, multiple case reports have described the onset of autoimmune-related conditions, including myasthenia gravis, nephrotic syndrome, Henoch-Schönlein purpura, myocardial infarction, cerebrovascular events, and localized alopecia, typically within a few days, indicating that bee venom may play a role in triggering autoimmunity. We report a rare case of total alopecia occurring within ten days after a bee sting. While the literature includes one prior case of total alopecia...

The etiology of chronic kidney disease (CKD) is complex, with environmental copper exposure emerging as a non-traditional risk factor whose nephrotoxic mechanisms and impacts require in-depth investigation. This study conducted a retrospective analysis of 36 patients with abnormally elevated urinary copper levels, evaluating their clinical manifestations, biochemical indicators, and responses following copper chelation therapy, along with a literature review to explore the relationship between...

Bumetanide nasal spray (ENBUMYST^(™)) is a loop diuretic developed by Corstasis Therapeutics for the treatment of oedema. It is designed as a short-term therapeutic option, with absorption via the nasal mucosa potentially offering more consistent or predictable bioavailability than oral administration, particularly in patients with gastrointestinal impairment. Bumetanide nasal spray received its first approval on 12 September 2025 in the USA for the treatment of oedema associated with congestive...

Medullary sponge kidney (MSK) is a rare congenital renal anomaly characterised by cystic dilatation of the collecting ducts, often asymptomatic but occasionally presenting with hematuria, nephrolithiasis, or urinary tract infections. While familial cases exist, its precise genetic basis remains unclear. The TRIM8 gene encodes an E3 ubiquitin ligase involved in regulating cellular proliferation, immune response, and differentiation. Pathogenic TRIM8 variants have predominantly been linked to...

Podocyte injury is the primary pathology responsible for 70-90% of nephrotic syndrome (NS) in children, a condition closely associated with the aberrant expression of Angiopoietin-like-3 (ANGPTL3). The regulatory mechanism by which ANGPTL3 is upregulated during NS progression remains elusive. In this study, we found that ANGPTL3 can be regulated by Cytoplasmic polyadenylation element binding protein 2 (CPEB2) through translational control, and conversely, CPEB2 can be transcriptionally regulated...

Heavy chain (AH) amyloidosis is a rare form of primary systemic amyloidosis that predominantly affects the kidneys and can lead to nephrotic syndrome. It is marked by the deposition of amyloid fibrils derived from immunoglobulin (Ig)-heavy chains. Monoclonal immunoglobulin deposition disease is a similarly rare disorder involving deposition of nonfibrillar and Congo red-negative monotypic Ig molecules in basement membranes. It can be derived from Ig light chains, Ig heavy chains, or Ig light and...

Transplant renal artery stenosis (TRAS) is a common vascular complication after kidney transplantation. It usually presents with worsening hypertension, fluid retention, and renal allograft dysfunction. Nephrotic range proteinuria has not been reported as a manifestation of TRAS, although renal artery stenosis (RAS) in native kidneys can cause heavy proteinuria. Here, we present the case of a 73-year-old female with history of chronic kidney disease from diabetic nephropathy. She developed renal...

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Heritability is a fundamental parameter of diseases and other traits, quantifying the contribution of genetics to that trait. Kinship matrices are required for heritability estimation with variance components models. However, the most common "standard" kinship estimator employed by GCTA (Genome-wide Complex Trait Analysis) and other approaches, can be severely biased in structured populations. In this study, we characterize two heritability estimation biases in GCTA due to kinship estimation...

CONCLUSIONS: This single center retrospective study characterizes c-PGNMID in four patients. All cases exhibited IgG3κ/λ-restricted deposits, hypocomplementemia (3/4) and rapid progression to end-stage kidney disease (ESKD) despite aggressive immunosuppression. These findings highlight the need for novel therapies targeting clonal plasma cells or complement-mediated injury.

IgA nephropathy (IgAN) is an immune complex-mediated glomerulonephritis characterized by predominant IgA deposition in the mesangial region, typically exhibiting polyclonal IgA deposits (co-dominance of κ and λ light chains). However, a few studies have reported IgAN cases with monotypic IgA deposition in glomeruli on renal immunofluorescence, predominantly IgA-λ, while IgA-κ deposition is rare. The pathogenesis, pathological features, and prognosis of IgA-κ monotypic deposition remain poorly...

Rheumatoid arthritis (RA) is a heritable autoimmune disease linked to chronic kidney disease (CKD) in observational studies. However, whether this association is causal and driven by shared genetic risk remains unclear, warranting genetic investigation. To investigate possible causal relationships between RA and different CKD subtypes, we used Mendelian randomization (MR) analyses with data from genome-wide association studies. The inverse variance weighted (IVW) methodology was the main method,...

CONCLUSIONS AND RELEVANCE: These results support use of rituximab to prevent relapse in adults with FRNS or SDNS.

CONCLUSION: Our results suggest a potential inverse association between BMI and GA levels.

CASE DESCRIPTION: A 38-year-old man presented with NELL-1 positive membranous nephropathy (MN). Initial treatment with rituximab and later cyclosporine failed to result in sustained clinical improvement. Upon further review, the patient had been applying a skin fairness cream nightly for 2 years preceding diagnosis. The cream was discontinued, and follow-up testing confirmed markedly elevated serum mercury levels of 66.8 µg/L (normal less than 20 µg/L), and 24-hour urine mercury of 103.9 nmol/d....

CONCLUSION: Heavy proteinuria of 25.4 g per 24 hours is a rare presenting feature of adult primary nephrotic syndrome, specifically minimal change disease.

CONCLUSION: This case highlights FMT's potential in modulating gut-parasite interactions and suggests its role as adjunctive therapy for parasitic hyperinfection syndromes.

Congenital nephrotic syndrome is a rare autosomal recessive genetic disorder, with the Finnish type caused by NPHS1 variants being the most common. It is characterized by massive proteinuria, hypoalbuminemia, hypercholesterolemia, and edema, ultimately progressing to end-stage renal disease. To date, 260 genetic variants in NPHS1 have been reported, with two variants prevalent in Finnish patients, while non-Finnish populations exhibit greater genetic heterogeneity. This case report describes a...

CONCLUSION: This case provides an excellent example of tract haemorrhage demonstrated fluoroscopically. We discuss the available treatment options, which may need to be employed in urgent or emergent fashion, in paediatric patients with differing physiological reserves.

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We encountered a case of congenital diaphragmatic hernia (CDH) and congenital nephrotic syndrome (CNS) in a low-birth-weight infant weighing < 2 kg. Dialysis was required due to progressive acute kidney injury in the early postnatal period, and a peritoneal dialysis (PD) catheter was placed during CDH repair surgery. During the postoperative acute phase, continuous hemodialysis (CHD) was performed to minimize stress on the surgical site; however, owing to PD-related peritonitis and sutural...

CONCLUSION: We identified a likely genetic cause of kidney disease in 43% of participants. Elucidating prevalent disease genes and disease variants in a defined region and genetic ancestry group provides important insights into variant pathogenicity assessment, disease management, and prognosis.

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Introduction Prognostic value of glomerular hematuria in primary membranous nephropathy (PMN) patients with nephrotic syndrome (NS) has not been well understood. We investigated the earlier improvement of hematuria in PMN patients with NS receiving immunosuppressive (IS) therapies to illuminate its prediction capacity for the treatment response and remission status at 12 months. Methods This is a single-center retrospective study. From 1 January 2021 to 30 June 2024, patients with biopsy-proven...

Bevacizumab, an anti-VEGF agent commonly employed in cancer therapy, can induce renal vascular endothelial and podocyte damage by inhibiting VEGF, leading to renal disease. We present a case of nephrotic syndrome and renal insufficiency arising from small intestinal mucinous adenocarcinoma 17 years post-renal transplantation, treated with bevacizumab and sindilizumab. Renal biopsy confirmed renal-limited thrombotic microangiopathy (TMA) with FSGS-like lesions in the transplanted kidney,...

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

CONCLUSION: This study sheds light on LN patients in Palestine, highlighting the high morbidity and mortality rates. It emphasizes early detection and aggressive management, especially in patients with hypertension and elevated creatinine levels, to improve outcomes and reduce progression to ESRD.

Focal segmental glomerulosclerosis (FSGS) and minimal change disease (MCD) are major causes of primary nephrotic syndrome. However, the mechanisms of liquid-liquid phase separation (LLPS)-related genes in the development of FSGS and MCD remain unclear. We retrieved the Gene Expression Omnibus (GEO) database for the expression profiles of FSGS and MCD and identified the differentially expressed genes (DEGs) related to LLPS. Algorithms including Vector Machine-Recursive Feature Elimination...

CONCLUSION: These data show that albumin directly increases fibrin network porosity and enhances fibrinolysis. Hypoalbuminemia may mechanistically contribute to nephrotic syndrome thrombotic complications, and may similarly increase thrombotic risk in other hypoalbuminemic conditions.

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Fever is one of the most common chief complaints for patients in the pediatric emergency department (ED). Most of the time, these patients are diagnosed with a virus and treated with supportive care; however, there are a subset of patients with chronic conditions or special circumstances that require a more thorough approach when they enter the ED with a fever. This article will go into detail about why we must be on high alert when these children present with a fever and how we should approach...

Hydatid disease is a parasitic infection primarily involving the liver and is prevalent in Mediterranean and other endemic regions. Although commonly hepatic, its association with glomerular injury is extremely rare. We report the case of a 16-year-old male with a history of chronic cough and exposure to dogs who presented with generalized edema, macroscopic hematuria, and renal impairment. Laboratory evaluation confirmed nephrotic-range proteinuria, hypoalbuminemia, and impaired renal function....

CONCLUSION: South African black children are diagnosed with high rates of CNS attributed to untreated maternal CMV and HIV infections likely resulting from limited prenatal maternal care in this population. The diagnostic genetic yield was much less than expected, most likely due to the small number of patients tested compared to larger studies in Western settings, indicating a need for further investigation of the genetic landscape of CNS in African populations.

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CONCLUSIONS: Torsemide is not superior to furosemide in inducing diuresis in children with nephrotic syndrome with moderate to severe edema.

Lenvatinib, a multi-targeted tyrosine kinase inhibitor (TKI), is widely used in the treatment of radioactive iodine-refractory thyroid carcinoma, including poorly differentiated subtypes. While its clinical efficacy is well documented, significant adverse events, such as proteinuria and renal dysfunction, may confine the treatment. This report describes a case of a 77-year-old man with poorly differentiated thyroid carcinoma who developed nephrotic-range proteinuria and progressive renal...

CONCLUSIONS: This study suggests that supraphysiological GC administered for several weeks can potentially be weaned and stopped safely without formal biochemical assessment in patients with NS and JIA. Specialist teams provide families with rapid access to advice which supports safe practice. An alternate day weaning regimen following a modest period of daily supraphysiological GC may have reduced the likelihood of AS at critical times.

CONCLUSIONS: Consensus exists among surveyed participants on core disease and patient-reported outcomes for childhood nephrotic syndrome research. Findings can improve the quality and reporting of future trials in this population.

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CONCLUSIONS: Our findings demonstrate the robust diagnostic and clinical genetic value of WES in a broad spectrum of kidney diseases.

CONCLUSION: Early recognition, prompt discontinuation of the offending agent, and targeted therapeutic interventions are crucial to improving outcomes in these life-threatening scenarios.

Sodium imbalance is a common concern in children with kidney diseases, presenting as either sodium excess or sodium deficit, each with significant clinical implications. Sodium excess contributes to fluid overload and hypertension, while increased sodium losses, particularly via urine or peritoneal fluid, can predispose patients to hypotension and growth failure. Effective sodium management is thus a critical component of care in pediatric kidney diseases, with dietary sodium intake playing a...

Heart transplantation is regarded as the definitive treatment for advanced pediatric heart failure. However, concomitant kidney dysfunction often complicates candidate selection for isolated heart transplantation. Prolonged venous congestion, nephrotoxic exposures, and recurrent episodes of acute kidney injury can result in varying degrees of renal impairment. Differentiating between reversible kidney injury secondary to cardiorenal syndrome and irreversible intrinsic renal disease remains a...

CONCLUSIONS: This case series illustrates the surgical complexity and multidisciplinary coordination required in pediatric PH1 management and supports the role of seqLKT with conduit-based hepatic artery reconstruction and intensive dialysis bridging as effective approaches in selected patients, particularly in settings without access to gene-targeted therapy.

The estimation of glomerular filtration rate (eGFR) is central to nephrology, yet the growing number of equations often raises concern. However, only a few creatinine-based equations have gained widespread validation: Cockcroft-Gault (CG), Modification of Diet in Renal Disease (MDRD), Chronic Kidney Disease Epidemiology (CKD-EPI), and European Kidney Function Consortium (EKFC). The CG equation, introduced in 1976, was simple but imprecise. In 1999, the MDRD study equation improved GFR estimation...

Kidney transplantation (KT) represents the optimal treatment method for chronic kidney disease. However, various acute and chronic injuries seriously compromise the long-term survival rates of grafts and patients. Ischemia-reperfusion injury (IRI), which is inevitable in KT, initiates damage and inflammatory response in the allografts, leading to delayed graft function, and an increased risk of acute rejection, severely damage the transplanted kidney. The APJ/apelin system has been confirmed to...

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.

Autosomal recessive polycystic kidney disease (ARPKD) is a rare, inherited condition associated with pathogenic variants in the PKHD1 gene, leading to fibrocystin dysfunction. ARPKD carries significant morbidity, involving progressive kidney dysfunction that often necessitates transplantation or dialysis. Liver complications commonly accompany renal manifestations and contribute to marked clinical heterogeneity and challenging disease management. Current therapies focus on alleviating...

CONCLUSIONS: Skeletal deficits in KTxp recipients largely stabilize or improve beyond 6 months, with the exception of progressive cortical thinning. Strategies are needed to preserve cortical bone prior to and following KTxp. Gains in BMI and ALMI may improve bone health in the weight-bearing skeleton following KTxp.

CONCLUSION: CKD and hypertension significantly increase the risk of septic complications and worsen renal outcomes, particularly in patients with fluid management challenges. Early identification of high-risk patients, individualized hemodynamic targets, and tailored fluid resuscitation strategies are critical in reducing morbidity and mortality. Special attention is needed in pediatric patients with limited nephron reserve, where long-term surveillance and early intervention may improve...

Kidney transplantation provides the best survival advantage for children, adolescents, and young adults with end-stage kidney disease, yet this group paradoxically experiences the poorest long-term graft survival. Immune-mediated rejection is the predominant cause, but the cellular mechanisms that underpin this age-related disparity remain incompletely defined. This review synthesises current evidence on the impact of immune ageing across adaptive and innate compartments, focusing on T cells, B...

CONCLUSIONS: This study demonstrates an independent association between LVH and PKD1 mutations and links aortic regurgitation with renal disease severity in ADPKD. These findings highlight genotype-phenotype correlations that may help stratify cardiovascular risk and inform personalized management in ADPKD.

Adverse short- and long-term kidney outcomes are increasingly recognized as sequelae of NICU care, oftentimes of multifactorial origin and in the setting of a patent ductus arteriosus (PDA). Many studies have reviewed the interactions between the PDA and the brain, intestine, and lungs, but few have specifically reviewed the potential influence of the PDA on the kidney. This review describes the current breadth of literature as it relates to the pathophysiologic interplay between the PDA and the...

CONCLUSION: This case highlights a rare but serious complication of kidney transplantation under general anesthesia, potentially linked to propofol. Timely escalation from aspiration to surgical shunting is crucial in persistent cases to prevent long-term sequelae.

CONCLUSIONS: Elevated dd-cfDNA levels were associated with rejection in for-cause biopsies but not in surveillance biopsies.

Cells with renal progenitor cells characteristics are shed in urine. This study aimed to investigate whether these SIX2-positive urine-derived renal progenitor cells (UdRPC) have therapeutic potential in treating or managing acute to chronic kidney injuries, which are increasing worldwide and currently affect one in ten people. Human UdRPC were obtained from a 35-year-old woman, expanded, and characterized in vitro before being transplanted unilaterally under the renal capsule of mouse kidneys...

BACKGROUND: Objective structured clinical examinations (OSCEs) are a cornerstone of undergraduate medical student assessment evaluating encounters between students and simulated patients (SPs). SPs are at risk of developing non-specific symptoms such as stress and anxiety. However, data on physical sensations related to their role, vicarious symptoms (VSs), are limited. We sought to measure the prevalence of VSs among SPs and identify factors among socio-demographic characteristics and...

Background: Renal allograft biopsy is essential in the follow-up of pediatric kidney transplant recipients, but the optimal sedation strategy remains uncertain. Methods: We retrospectively reviewed 711 ultrasound-guided biopsies in 251 children and adolescents (2009-2024), comparing oral conscious sedation with midazolam to deep intravenous (IV) sedation with propofol, midazolam, and ketamine. Outcomes included tissue yield, diagnostic success, complications, and cost-effectiveness. Results: IV...

CONCLUSIONS: Despite a lack of standardization of the pre-transplant psychological evaluation, areas of consistency exist. However, variability in practice among pediatric solid organ transplant centers remains, necessitating the development of a common foundation for the pre-transplant psychological evaluation. Results also emphasize the importance of psychology's role within pediatric transplant teams.

CONCLUSIONS: Long-term GH treatment is associated with reduced PWV in children with CKD, which is at least partly related to GH/IGF1-induced upregulation of sKlotho.

CONCLUSION: Our study provides real-world evidence regarding the extent, dynamics, dose-response relationship, and long-term functional impact of CNI therapy in nongenetic and genetic forms of SRNS.

CONCLUSION: To date, 37 patients with ADKH-RRAGD have been identified. Kidney tubulopathy is the most prominent feature within the phenotypic spectrum of ADKH-RRAGD. Molecularly, constitutive activation of noncanonical mTORC1 is present in most RRAGD variants. From a therapeutic perspective, dapagliflozin may increase serum Mg^(2+) levels in patients with RRAGD variants.

CONCLUSIONS: Our findings identify novel stress-induced SnIMs in renal allograft rejection and highlight their pathogenic role in rejection injury, providing a therapeutic target to improve renal transplant outcome.

CONCLUSIONS AND RELEVANCE: The results of this cohort study suggest that deceased donor kidney transplant is associated with improved survival compared with dialysis, but survival benefits vary by donor quality and recipient characteristics. High KDRI-scoring kidneys are associated with modest survival gains, with limited survival benefits observed among younger recipients. These findings highlight the need for tailored counseling and shared decision-making to align treatment choices with...

CONCLUSIONS: Improving the discrimination and calibration of kidney allograft survival prediction models is achievable by including recipient characteristics. These enhanced models have potential to improve the system of kidney allocation.

CONCLUSIONS: Parents face significant challenges in deciding whether to consent to ECT for their adolescent children. In this study, parents were influenced by the perceived risks of ECT, social stigma, treatment costs, media representations, and adolescents' understanding of ECT. Mental health nurses working in clinical settings can use these findings to gain a more comprehensive understanding of the decision-making process of parents of adolescents, improve parents' decision-making experience,...

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

No abstract

CONCLUSION: Our findings suggest that SIX2 overexpression in primary hAK cells functionally confers enhanced self-renewal and tubulogenic capacity while transcriptionally inducing a proximal-to-distal tubular cell diversion with maintained proliferative programs. In contrast, OSR1 activates the broader developmental morphogenetic networks but poses potential oncogenic risks. The malignant transformation observed with OSR1 overexpression provides insights into the potential cellular origins of...

CONCLUSIONS: The updated EULAR recommendations provide evidence- and expert-based consensus on the management of SLE with kidney involvement, adjusted for severity, and taking into consideration long-term efficacy, safety, cost, and local availability of drugs.

CONCLUSION: These data show that all common eGFR equations using SCr or SCys poorly predict mGFR in African children with SCA. SCr-based equations potentially miss a decline in kidney function, which suggests that SCys could be the preferred marker in this population.

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

CONCLUSIONS: In 2025, the EACS Guidelines underwent a comprehensive update and restructuring. They now consist of two distinct parts and include several new sections. The recommendations are available as a free mobile app and in an interactive web format.

CONCLUSIONS: NEC is associated with increased risk of AKI in preterm infants, when controlling for birth weight, gestational age PDA, ibuprofen and gentamicin exposure. Bell stage was not associated with AKI incidence, in our cohort. These findings support the consideration of early kidney function surveillance in NEC to inform risk stratification and improve outcomes.

INTRODUCTION: Plasmapheresis has been a therapeutic option in kidney diseases to eliminate disease-causing autoantibodies, circulating factors, and abnormal components involved in complement pathways. We aim to systematically review the effectiveness and adverse events associated with plasmapheresis and related apheresis therapies in treating kidney diseases in paediatric and adult populations.

CONCLUSIONS: Our proposed strategy may possibly guide anti-complement treatment.

Liver transplantation (LTx) has become, over the years, an increasingly used therapeutic option in patients with inherited metabolic diseases (IMD). Initially performed for Tyrosinemia Type I and ornithine transcarbamylase deficiency, it now accounts as the second indication for pediatric transplants worldwide. The use of LTx has been extended to systemic metabolic disorders, in which a genetically normal liver can correct the defect by providing an enzyme replacement therapy that improves...

CONCLUSIONS: Pregnancy in female lung transplant recipients appears to be at risk of humoral rejection in the year following pregnancy.

CONCLUSIONS: The long-term monitoring of kidney function is especially important for survivors of childhood cancer who received their initial treatment at an older age, underwent cisplatin-based chemotherapy, or underwent nephrectomy.

INTRODUCTION: Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is caused by haploinsufficient GATA3 variants. Renal disease is present in 72% of patients with HDR syndrome, with a widely variable age of onset and rate of progression. Overall prognosis is primarily dependent upon the severity of renal disease. Four patients have been previously reported to have kidney transplants due to HDR syndrome, but there are minimal data describing transplant outcomes. We...

Prognostic outcome models might help to minimise the discard rates of renal transplants from deceased donors. To this end, we published 2-Step Scores for both delayed graft function and transplant loss with optional histology. With conventional paraffin PAS histology taking at least 3 h excluding transport time, we tested whether fast, mobile confocal histology with portable VivaScope® 2500 systems might offer a viable and more rapid alternative. After omitting 17 biopsies with less than 12...

Kidney transplantation is the optimal treatment method for chronic kidney disease. Although the short-term and long-term survival rates of transplanted kidneys have been significantly improved with the development of immunosuppressive agents, acute rejection remains the main risk factor threatening the survival of the allografts and patient. We utilized bioinformatics analysis to identify the predictive and therapeutic target of acute rejection after kidney transplantation. In the results,...

CONCLUSIONS: This case demonstrates that NRP can be applied effectively in small pediatric donors, yielding excellent early graft function. Our experience adds to the emerging literature on pediatric NRP. We conclude that broader adoption of NRP could help increase the donor pool and ease the strain on the pediatric waiting list.

In this issue of Cell Stem Cell, Huang et al.¹ address the challenge of creating organoids that more closely replicate kidney spatial patterning and function. They develop region-specific progenitor assembloids mimicking native architecture. After transplantation into mice, which further promotes differentiation, they demonstrate functional and disease modeling capability.

CONCLUSIONS: This study demonstrates that endocrine and metabolic complications are common in pediatric SOT recipients. Effective surveillance and management of these sequelae are crucial to improve long-term quality of life following SOT.

End-stage kidney disease is preferably treated by kidney transplantation. The function of the allograft often determines kidney-controlled processes and requires long-term monitoring. Kidneys are organs with a very high metabolic rate, and, thus, a metabolomics approach is suitable to observe systemic metabolic changes that are related to graft adaptation. To understand these ongoing changes in post-transplant pediatric patients, we applied a targeted liquid chromatography/tandem mass...

Autoimmune hepatitis (AIH) is an immune-mediated liver disease that currently lacks viable drug treatment methods. This study is to explore the role of piceatannol (PIC) in ConA-induced AIH and the related mechanisms. A mouse model of AIH was established by injecting ConA (i.v.), and PIC was administered as an intervention. The protective effect of PIC was evaluated by the liver function, liver pathology, and serum levels of inflammatory factors. Subsequently, network pharmacology was used to...

CONCLUSIONS: CVD remains the leading cause of disease burden and death worldwide with the greatest burden in low, low-middle, and middle SDI regions. Large variation exists in CVD burden even for countries at similar levels of development, a gap explained substantially by known, modifiable risk factors that are inadequately controlled. The decades-long increase in CVD burden was the result of population growth, population aging, and increased exposure to a subset of risk factors led by metabolic...

CONCLUSIONS: Younger systemic internal milieu in young recipients alleviated AKI after kidney transplantation by ameliorating oxidative stress and apoptosis via immune response regulation. Cytokines may play a protective role in AKI after kidney transplantation. The use of cytokines in transplantation deserves further experimental evaluation and clinical considerations.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

No abstract

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.

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

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

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

No abstract

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

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

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

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

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

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

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

CONCLUSION: In adults, urinary CD80 can serve as a marker of nephrotic syndrome but is not specific for MCD, whereas serum suPAR does not appear to be useful as a diagnostic or treatment response marker.

The article summarizes the current evidence on the impact of microbiota alterations on immune-mediated primary glomerulonephritis in children. In particular, the focus is on the link between dysbiosis and the onset or recurrence of idiopathic nephrotic syndrome, immunoglobulin A nephropathy, and membranous nephropathy. The aim is to describe possible pathomechanisms, differences in gut microbiota composition between pediatric patients and healthy controls, and possible usage of microbiota...

CONCLUSION: We provide a panel of in vitro bioassays to measure podocyte injury and predict the presence of CPFs in plasma of patients with nephrotic syndrome (NS), providing a new framework for monitoring CPF activity that may contribute to future NS diagnostics or used for disease monitoring purposes. Moreover, our findings suggest that the inhibition of ROS formation or facilitating rapid ROS scavenging may exert beneficial effects in patients with CPFs.

CONCLUSION: To our knowledge, this is the first report of MN in a female WAS/XLT patient. WAS protein expression defects affect all immune system cells; however, the mechanisms underlying the occurrence of autoimmunity are not completely understood. In WAS/XLT patients, MN may develop as a result of increased autoantibody production, similar to other types of immunodeficiency.

Primary membranous nephropathy (PMN) is one of the common causes of adult-onset nephrotic syndrome and is characterized by autoantibodies against podocyte antigens causing in situ immune complex deposition. Much of our understanding of the disease mechanisms underpinning this kidney-limited autoimmune disease originally came from studies of Heymann nephritis, a rat model of PMN, where autoantibodies against megalin produced a similar disease phenotype though megalin is not implicated in human...

CONCLUSIONS: The shared genetic risk factors among patients with different presentations of INS strongly suggests a shared autoimmune pathogenesis when monogenic causes are excluded. Use of the SSNS-GRS, in addition to testing for monogenic causes, may help to classify patients presenting with INS. A higher resolution version of the Graphical abstract is available as Supplementary information.

CONCLUSIONS: Corticosteroids with or without concomitant additional immunosuppression significantly increased risk of infection leading to acute care utilization in adults and children with glomerular disease.

CONCLUSION: Exposure following subcutaneous belimumab administration in pediatric patients is consistent with approved usage; these findings, along with consistent safety and efficacy data, support subcutaneous belimumab use for pediatric patients with SLE.

No abstract

Juvenile-onset systemic lupus erythematosus (jSLE) is an autoimmune disease that presents with greater severity and higher mobility than adult-onset SLE. In Latin America, data on its incidence, prevalence and clinical phenotypes are limited. Specialized care is available only in a few centers with trained pediatric rheumatologists leading to substantial diagnostic delays and barriers to timely treatment. This review highlights the urgent need for region-specific strategies to improve early...

CONCLUSIONS: The differential diagnosis of pediatric migratory arthritis is diverse. Merely half of the patients were diagnosed with ARF. A considerable proportion of diagnoses related to post-infectious conditions. Malignancies, though rare, are an important differential. Only a small proportion had juvenile idiopathic arthritis. Migratory arthritis poses a diagnostic challenge and ARF should be differentiated from other diagnoses where applicable.

This chapter explores the role of salivary immune and endocrine biomarkers in diagnosing and managing skin and mucocutaneous diseases. These conditions, including allergic, inflammatory, and autoimmune disorders, often present complex diagnostic and therapeutic challenges. Salivary biomarkers offer a promising alternative to traditional blood-based diagnostics, due to their non-invasive sampling method and the ability to reflect both local and systemic immune responses. Key biomarkers, such as...

CONCLUSIONS: This study identified gaps in SRH knowledge among female adolescents with susceptible RDs. Many participants are receiving SRH information from non-health care sources, but desire to have discussions on SRH with their provider. These findings signal a need for additional research in this area with expansion to other RDs and males. Clinicians and researchers can work alongside this population to develop tools and inform SRH guidelines to address patient concerns and improve overall...

CONCLUSION: TPE was safe and beneficial in children with severe autoimmune diseases. Mortality was related to disease duration rather than the procedure itself.

CONCLUSION: Various factors can lead to complications of PRES in paediatric patients with systemic lupus erythematosus. In our patient, the likely cause was the high disease activity of SLE. This review revealed that juvenile SLE cases accompanied by PRES are often associated with lupus nephritis, hypertension, and high disease activity. Most patients recover with timely and active treatment, with only a few experiencing recurrence.

No abstract

CONCLUSION: This guideline presents direction regarding treatment and management of SLE and provides a foundation for well-informed, shared clinician-patient decision-making. These recommendations should not be used to limit or deny access to therapies, as treatment decisions may vary due to the unique clinical situation and personal preferences of each person with SLE.

CONCLUSION: This guideline presents direction regarding treatment and management of SLE and provides a foundation for well-informed, shared clinician-patient decision-making. These recommendations should not be used to limit or deny access to therapies, as treatment decisions may vary due to the unique clinical situation and personal preferences of each person with SLE.

CONCLUSION: Caregivers provide complementary information on the physical aspects of HRQOL with a tendency to estimate worse symptoms and decreased functioning. Child self-report remains the gold standard for understanding HRQOL in pediatric populations with rheumatic diseases.

CONCLUSIONS: Grx2 acts as a redox checkpoint that limits ABC-driven autoimmunity by modulating ROS. The Grx2-ROS axis represents a potential therapeutic target for SLE and related chronic inflammatory diseases.

CONCLUSION: Tofacitinib in patients with SLE with active MC manifestations showed good effectiveness by week 4 as well as tolerability at exposure comparable to those with other rheumatic diseases. Tofacitinib was associated with significant improvement of QoL due to rapid improvement of MC inflammation. Observed safety and pharmacokinetics were comparable to observations in juvenile and adult arthritis.

Hydroxychloroquine (HCQ) therapy is the main treatment for systemic lupus erythematosus (SLE); however, rare adverse effects, including generalized pustular psoriasis (GPP), have been predominantly reported in adults. We herein report the first case of GPP caused by HCQ in a pediatric SLE patient. A 7-year-old girl with SLE developed fever, hepatic dysfunction, and disseminated pustules 3 weeks after starting HCQ. Histopathological examination revealed the characteristic features of GPP,...

CONCLUSIONS: The RAIL identifies active LN and longitudinally differentiates treatment response in adults with LN.

Autoimmune hemolytic anemia (AIHA) with an isolated C3d-positive direct antiglobulin test is a rare and understudied condition in children. It typically encompasses cold agglutinin syndrome and paroxysmal cold hemoglobinuria, both transient, infection-triggered disorders collectively referred to as cold AIHA. We report a national cohort of 142 pediatric patients with isolated C3d-positive AIHA, representing 21.6% of all childhood AIHA cases enrolled in the French OBS'CEREVANCE cohort over a...

CONCLUSION: A. lappa shows promising immunopharmacological potential for IMSDs, but the evidence remains preliminary. The current literature is limited by variability in extract preparation, a lack of standardized dosing, and the absence of robust randomized clinical trials. Future research should prioritize standardized phytochemical characterization, translational animal models, pharmacokinetic studies, and controlled clinical investigations to establish efficacy and safety.

CONCLUSIONS: The updated EULAR recommendations provide evidence- and expert-based consensus on the management of SLE with kidney involvement, adjusted for severity, and taking into consideration long-term efficacy, safety, cost, and local availability of drugs.

No abstract

CONCLUSION: Biopsy-confirmed CeD was three times prevalent in children and adolescents with cSLE than reported in the general pediatric population. Only half of cSLE patients with CeD had gastrointestinal symptoms, highlighting the importance of screening in the cSLE population.

Standardised diagnostic criteria for monogenic lupus are lacking owing to its rarity, diverse phenotypes, and significant heterogeneity in pathogenesis, phenotypic characteristics, disease course, and outcomes. Further, no studies have analysed the characteristics of multiple pathological mechanisms of monogenic lupus. Therefore, we retrospectively summarised the clinical characteristics, genotypes, and treatment of 36 patients with monogenic lupus with 16 different gene mutations admitted to...

INTRODUCTION: Pregnancy in women with systemic lupus erythematosus presents significant clinical challenges due to heightened risks of complications for both mother and fetus. Therapeutic management must be carefully tailored to safeguard maternal health while ensuring optimal fetal development.

CONCLUSIONS: Although the EULAR/ACR-2019 criteria are generally applicable, the limited specificity for MCTD necessitates careful differential diagnosis. Japanese cSLE is commonly characterized by renal involvement, hypocomplementemia, and SLE-related autoantibody positivity.

Systemic lupus erythematosus is a chronic multisystem autoimmune disorder with varied etiology and clinical presentation. It is unusual during infancy. We describe a 2-year-old boy who presented with progressive mucocutaneous lesions with arthralgia and limb pain. He had hepatomegaly, Raynaud's phenomenon, brisk deep tendon reflexes, and bilateral upper and lower limb weakness. On evaluation, he was positive for ANA and SSA only without any complement activation and was subsequently diagnosed...

CONCLUSIONS: This pioneering study has revealed a panel of CECs genes as potential molecular markers for lo-SLE, supporting a novel erythroid modulation theory. These novel findings provide valuable insights into previously unrecognized molecular mechanisms underlying the latent disease activity of lo-SLE.

CONCLUSIONS: This case underscores the importance of early suspicion of autoimmune disorders by primary care providers for a timely referral and the critical role of specialists in recognizing the limitations of conventional tools, including renal histology, when distinguishing incidental ANCA positivity from SLE-AAV overlap to guide appropriate treatment.

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...

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A relationship between epilepsy an autoimmune disorder has been demonstrated by multiple studies. This association is stronger, when looking at specific disorders, such as systemic lupus erythematosus and diabetes mellitus type 1. Seizures could also represent a manifestation of immunological disorders with antibodies direct towards neuronal targets. This article focus on the diseases with more convincing evidence about this association or the disorders most frequently observed in pediatrics.

Systemic lupus erythematosus is characterized by activation of many self-reactive B cell clones that produce autoantibodies. This can be modeled using mixed bone marrow chimeras, where autoreactive 564Igi B cells initiate autoimmunity that spreads to wild-type (WT) B cells. The mechanisms controlling the inclusion of new B cell clones into spontaneous germinal centers (GCs) remain unclear. Using CRISPR-Cas9, we generated 2 autoreactive B cell receptor knock-in strains, M05 and G55, based on B...

This case report describes a diagnostically challenging presentation of systemic lupus erythematosus (SLE) in a 37-year-old male patient with a five-year history of isolated chronic kidney disease (CKD) requiring hemodialysis, who acutely developed progressive multi-organ failure. Initial evaluation revealed severe pancytopenia, hypoalbuminemia, elevated cardiac biomarkers, and multi-cavity effusions. Autoimmune serology confirmed the diagnosis of SLE with characteristic autoantibodies. Critical...

CONCLUSION: WES helped us detect hereditary diseases that have a clinical presentation like GN, including Alport syndrome and possible aHUS. Finding susceptibility genes in GN helped us understand disease pathophysiology.

N⁶-methyladenosine (m⁶A) has recently emerged as a post-transcriptional modulator governing cell-specific gene expression in innate immune cells, particularly in monocytes. Disruptions in m⁶A homeostasis, manifested as the altered expression of m⁶A-related proteins and m⁶A levels, have been implicated in autoimmune disorders. Perturbations in m⁶A dynamics within total Peripheral blood mononuclear cells (PBMCs) have shown strong correlations with disease severity in rheumatoid arthritis (RA) and...

CONCLUSIONS: We observed higher hospitalised infection rates in children with cSLE and LN compared with those without LN. Among children with LN, those who received cyclophosphamide had more infections than those who received mycophenolate. Methotrexate was associated with lower infection rates than mycophenolate or azathioprine among youth without LN. Higher daily oral steroid dose was significantly associated with increased hospitalised infection risk in youth with non-renal SLE.

Hydralazine is a vasodilator typically used in the treatment of resistant hypertension and heart failure. N-acetyltransferase 2 (NAT2) catalyzes the metabolism of hydralazine into inactive metabolites. NAT2 poor metabolizers (historically referred to as "slow acetylators") are predicted to have increased plasma hydralazine concentrations compared with NAT2 rapid and intermediate metabolizers (historically referred to as "rapid acetylators" and "intermediate acetylators," respectively), which may...

The use of artificial intelligence (AI) in inborn errors of immunity offers transformative potential in diagnostics and disease management but faces multiple challenges that were discussed at the second Artificial Intelligence in Primary Immunodeficiency conference, held in New York City (March 19-22, 2025). The conference addressed 7 themes: predictive diagnostic algorithms, health equity, industry collaboration, advanced computational tools like large language models, patient-led AI...

CONCLUSION: The SLICC-2012 criteria exhibited optimal diagnostic performance for cSLE in Southwest China. Modifying the cut-off value and entry requirements of the EULAR/ACR-2019 criteria could enhance its applicability in pediatric populations.

Fabry disease (FD) is an X-linked lysosomal storage disease caused by a deficiency of the enzyme alpha-galactosidase (α-Gal). Systemic lupus erythematosus (SLE) is a chronic autoimmune disease with multisystem involvement and predominantly affects women of childbearing age. FD and SLE affect similar organs and may show overlapping features. However, the coexistence of FD with SLE is an infrequent incidence. A 12-year-old Chinese boy was diagnosed to have SLE based on the symptoms of fever,...

CONCLUSION: Australia may have above-average prevalence of SLE and SSc and geographic variation in SSc and AAV. Key research gaps include: (1) sparse data for non-AAV vasculitis, RA, SpA, SjD, MCTD and children; (2) limited validated algorithms to identify SARDs in administrative health data; and (3) a need for large-scale spatial studies to detect disease clusters.

CONCLUSION: In our study, we focused on the rheumatic etiologies underlying childhood arthritis. Given the heterogeneity of etiologies, clinical evaluation should be comprehensive, considering systemic features beyond joint involvement.

CONCLUSIONS: Our study identifies an IFN-I signature in AAV, especially in MPA/MPO-AAV, underscoring its potential role in disease heterogeneity and kidney pathology. IFN-I emerges as a potential prognostic biomarker and therapeutic target in AAV, particularly for MPA. Further studies are needed to clarify its mechanisms and explore IFN-I modulation in clinical trials.

Case details: A 16-year boy had a history of rash, oral ulcers, alopecia, photosensitivity, cheilitis, and weight loss, for which he was started on steroids, methotrexate, and hydroxychloroquine from outside. Three years later, he developed pericardial effusion and peripheral neuropathy, that were managed at an outside hospital. Later, he presented to us with weight loss, diffuse rash, left facial palsy, and left lateral rectus palsy. CT aortogram revealed a string-of-pearls appearance involving...

Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare primary cutaneous lymphoma derived from cytotoxic αβ T cells, clinically and histopathologically resembling inflammatory diseases of adipose tissue, particularly lupus panniculitis. It accounts for <1% of all non-Hodgkin's lymphomas, with approximately 20% of cases occurring in children. The main aim of this paper was to present two pediatric cases of SPTCL, highlighting the diagnostic challenges involved. The first patient, a...

CONCLUSION: Cardiologists may be the first to detect pericardial effusion as a clinical feature of rheumatologic disease. Multi-disciplinary team care leads to good pregnancy outcomes for mother and child.

CONCLUSION: Our algorithm could assist physicians evaluating elevated CRP episodes in JSLE patients. Validation in larger cohorts may improve its performance.

Childhood-onset systemic lupus erythematosus (cSLE) is recognized as a chronic, systemic autoimmune disorder that manifests during childhood. Compared to adult-onset SLE, cSLE is characterized by higher disease activity and greater cumulative organ damage, thereby requiring more intensive immunosuppressive therapy. Although early diagnosis remains challenging, it is considered essential for improving clinical outcomes. In the present study, the serum metabolomic profiles of 100 cSLE patients and...

Systemic lupus erythematosus (SLE) is characterized by autoimmune dysregulation, elevated autoantibody production, and persistent inflammation, predisposing patients to atherosclerosis (AS). Atherogenesis is dependent on lipid homeostasis and inflammatory processes, with the formation of lipid-laden, macrophage-derived foam cells (MDFC) essential for atherosclerotic lesion progression. Elevated cholesterol levels within lipid rafts trigger heightened pro-inflammatory responses in macrophages via...

Systemic Lupus Erythematosus (SLE) is an autoimmune disease, and the most common and serious complications in children is lupus nephritis (LN). Recent studies have identified ferroptosis as a pathological process present in both LN patients and mouse models of LN. However, the specific molecular mechanisms regulating ferroptosis in LN remain largely unexplored. Protein kinase RNA-like endoplasmic reticulum kinase (PERK) is a transmembrane protein involved in maintaining cellular homeostasis and...

BACKGROUND: This study aims to interrogate the implications of CD8^(+) T cells in lupus by examining CD8^(+) T cell heterogeneity and assessing the significance of this heterogeneity in promoting inflammation and tissue damage.

CONCLUSIONS: The PKHD1 variant c.2713C>A; p.Gln905Lys may contribute to an ARPKD phenotype with a delayed juvenile onset.

CONCLUSIONS: TNF-α, IL-6, and particularly RDW were identified as risk factors for IgAV in Tibetan children, and there was no regional difference between Tibetan and Han children at high altitudes .

CONCLUSIONS: PPV23 is safe and immunogenic in SSNS during remission, eliciting responses equivalent to healthy peers. Importantly, younger age emerged as the only independent determinant of antibody gain-a novel finding in this population-underscoring the importance of timely vaccination in the disease course.

CONCLUSIONS: Our findings demonstrate the robust diagnostic and clinical genetic value of WES in a broad spectrum of kidney diseases.

Pediatric renal cysts can be isolated, hereditary, or related to acquired disease processes, and may be congenital or develop over time. Given the heterogeneity of pediatric renal cysts, their increasing detection, and the absence of unified pediatric-specific guidelines, additional practical imaging-based recommendations are needed. This AJR Expert Panel Narrative Review seeks to address such gaps by providing guidance for radiologists in evaluating renal cysts, focusing on imaging...

CONCLUSION: A positive family history and the presence of major oral aphthosis combined with minor oral aphthosis, genital aphthosis or pseudofolliculitis are associated with MOI development in patients with mucocutaneous BD at onset.

Furosemide is a commonly used diuretic, though there is scant literature describing its association with leukopenia. We present a case of neutropenia observed in a preterm infant with a congenital heart anomaly, who received both oral and intravenous furosemide over the course of two hospitalizations. Using the Naranjo adverse drug reaction probability scale, we posit that furosemide was the probable cause of this observed hematologic trend; other etiologies of neutropenia, such as infection,...

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Defects in mitochondrial energy metabolism in injured tubule epithelial cells (TECs) are a well-recognized hallmark of kidney injury pathogenesis; however, the key target leading to this defect during the acute kidney injury (AKI)-to-chronic kidney disease (CKD) transition remains elusive. Here we found that during the AKI-to-CKD transition, the increased WW domain containing E3 ubiquitin protein ligase 2 (WWP2) was shuttled to the mitochondria and disabled TEC mitochondrial energy metabolism by...

CONCLUSIONS: The burden of NCDs from behavioral risk factors in adolescents is substantial, with significant regional and gender disparities. Early interventions targeting alcohol use, drug use, and childhood abuse are critical, particularly in high-risk regions. Tailored public health policies and further research on additional risks, like diet and physical inactivity, are needed to address adolescent health comprehensively.

Adverse childhood experiences (ACEs) are associated with negative consequences for physical and mental health. ACEs are defined as harmful experiences from conception to age 18. They generate chronic toxic stress when exposed to emotional or sexual abuse or a dysfunctional home. ACEs produce "programming" on brain plasticity with immunoneuroendocrinological, cerebral, and epigenetic changes. The result is suboptimal development of physical, mental, and emotional abilities. This "programming" can...

Sodium imbalance is a common concern in children with kidney diseases, presenting as either sodium excess or sodium deficit, each with significant clinical implications. Sodium excess contributes to fluid overload and hypertension, while increased sodium losses, particularly via urine or peritoneal fluid, can predispose patients to hypotension and growth failure. Effective sodium management is thus a critical component of care in pediatric kidney diseases, with dietary sodium intake playing a...

Extracellular vesicles (EVs) are naturally occurring nanoparticles that mediate intercellular communication and hold great promise as a cell-free therapeutic strategy for kidney disease. However, their clinical translation remains limited by rapid clearance and inefficient tissue targeting. To overcome these challenges, we developed a decellularized kidney extracellular matrix (DKECM)-based bioink capable of sustained EV delivery. Unlike existing bioinks that combine extracellular matrix with...

The use of Glucagon-like peptide-1 receptor agonists (GLP-1RAs) is an established therapy for type 2 diabetes (T2D) and obesity, providing effective glycemic control, weight loss, and cardiovascular and renal benefits. Evidence is emerging on the potential neuropsychiatric and neuroprotective effects mediated via central GLP-1R. This review summarizes preclinical, clinical, and real-world findings on the use of GLP-1R agonists in depression, anxiety, binge eating disorder (BED), cognitive...

Pregnancy and childbirth are major concerns for women with immunoglobulin A nephropathy (IgAN), because it peaks in their child-bearing age. To provide evidence for optimal pre-conception care, we investigated whether the disease control status, assessed by blood pressure and/or urine protein level, is associated with adverse pregnancy outcomes. This case-control study used data from 924,238 patients with chronic kidney disease obtained from a hospital claims database. We included 297...

CONCLUSIONS: Interview participants recognized the problem of fluid overload but offered mixed perspectives on how to change clinical practice. Recognizing the multidisciplinary nature of caring for critically ill children with potential variations in viewpoints, we used the CFIR as a solution rooted in complexity to improve understanding of the problem, identify existing barriers, and leverage facilitators before designing a contextualized and practical strategy to optimize fluid balance.

CONCLUSION: Sleep disturbances are strongly associated with increased anxiety and depression symptoms in adolescents with AD. Interventions focusing on sleep and psychosocial stress may improve mental health outcomes in this vulnerable population.

Pediatric hepatocellular carcinoma (HCC) is a rare and aggressive malignancy with limited treatment options and poor prognosis, highlighting the need for innovative therapeutic strategies. Neoantigen-targeting peptide vaccination is a promising treatment approach with potential for combination therapy with checkpoint inhibition (CPI). Here, we present a case study of a pediatric patient with metastatic HCC treated with a neoantigen-derived peptide vaccine combined with CPI therapy after disease...

Kidney transplantation is the preferred treatment for children with end-stage kidney disease, offering notable improvements in long-term survival and overall quality of life. Nonetheless, paediatric transplant recipients are susceptible to a spectrum of complications that compromise allograft function and overall health. This review highlights key post-transplant complications to aid general paediatricians in recognising and managing these challenges in concert with nephrologists. Early...

No abstract

CONCLUSIONS: RLS are clinically relevant modifiers of uveitis activity and should guide patient education, risk stratification, and therapy. Early puberty and perimenopause increase relapse risk; pediatric cases show more severe anterior inflammation and require more systemic IST.

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CONCLUSIONS: Distinct cytokine signatures in the JDM subgroups underscore their role in disease heterogeneity and clinical presentation. These findings support cytokine profiling as a potential tool for patient classification and personalized treatment.

CONCLUSIONS: Genetic predisposition to PE, as measured by the PE-PRS, is associated with an elevated risk of incident hypertension and ischaemic heart disease in Asian women. These findings suggest the potential utility of the PE-PRS as a complementary tool in assessing individualised hypertension risk in parous women.

The respiratory system is integrated to optimize efficiency. Dysfunction of one element often impacts others. For example, in COPD, both OSA and small airways dysfunction are associated with worse emphysema. In BPD, cystic lung disease and tracheobronchomalacia are often comorbid. Further, childhood asthma predisposes to COPD. While mouse models have elucidated key mechanisms in respiratory disease, to date no models have accounted for how conducting airway dysfunction impacts alveolar structure...

Hypertension in children and adolescents is a growing public health concern; it poses immediate risks to health and frequently persists into adulthood, where it accelerates target organ damage and adverse cardiovascular and renal outcomes. This review summarizes recent studies published between 2024 and 2025 addressing hypertension in children and adolescents. Recent findings highlight obesity and asthma as major risk factors and point to systemic inflammation as a potential biomarker....

Heart transplantation is regarded as the definitive treatment for advanced pediatric heart failure. However, concomitant kidney dysfunction often complicates candidate selection for isolated heart transplantation. Prolonged venous congestion, nephrotoxic exposures, and recurrent episodes of acute kidney injury can result in varying degrees of renal impairment. Differentiating between reversible kidney injury secondary to cardiorenal syndrome and irreversible intrinsic renal disease remains a...

CONCLUSIONS: Our findings highlight the importance of individualized dietary and lifestyle guidance in pediatric stone formers, with a focus on maintaining a healthy BMI, adequate hydration, and urine pH between 6.75 and 7.0 to support protective factors like citrate and magnesium.

CONCLUSIONS: This case series illustrates the surgical complexity and multidisciplinary coordination required in pediatric PH1 management and supports the role of seqLKT with conduit-based hepatic artery reconstruction and intensive dialysis bridging as effective approaches in selected patients, particularly in settings without access to gene-targeted therapy.

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

The estimation of glomerular filtration rate (eGFR) is central to nephrology, yet the growing number of equations often raises concern. However, only a few creatinine-based equations have gained widespread validation: Cockcroft-Gault (CG), Modification of Diet in Renal Disease (MDRD), Chronic Kidney Disease Epidemiology (CKD-EPI), and European Kidney Function Consortium (EKFC). The CG equation, introduced in 1976, was simple but imprecise. In 1999, the MDRD study equation improved GFR estimation...

Perturbation of proximal tubule (PT) lipid metabolism fuels the pathological features of acute kidney injury (AKI). We found that AKI induced biosynthesis of lipotoxic ceramides within PTs in humans and mice and that urine ceramides predicted disease severity in children and adults. Mechanistic studies in primary PTs, which included a thermal proteomic profiling screen for ceramide effectors, revealed that ceramides altered assembly of the mitochondrial contact site and cristae-organizing system...

No abstract

Achondroplasia (ACH), a skeletal dysplasia, is characterized by disproportionate short stature and impaired quality of life. In Japan, growth hormone (GH) therapy has been available since 1997, and vosoritide, a C-type natriuretic peptide analog, was approved in 2022. Although clinical trials have demonstrated vosoritide's efficacy, real-world comparative data in Japan are scarce. We conducted a retrospective study of 22 children with ACH treated with vosoritide for over 6 months at a single...

CONCLUSION: Our findings reveal that cuprizone-induced intestinal dysfunctions temporally parallel central nervous system (CNS) lesion dynamics, disclosing temporal coordination of both compartments and highlighting gut-brain axis impact on both disease stages.

CONCLUSION: Given their robust proliferation capacity, UM30-OSN cells represent a valuable additional model for investigating kidney-associated diseases such the contribution of APOL1 high-risk variants to kidney injury and fibrosis.

CONCLUSION: Our findings demonstrate the diagnostic utility of a genomic autopsy in providing a genetic diagnosis for fetal PKD cases post-mortem, particularly in atypical presentations. A genetic diagnosis is highly beneficial for future family planning, including the use of reproductive technologies, as well as identifying presymptomatic parents who are likely to develop PKD in the future.

CONCLUSIONS: The assumption of the same cut-off value of GH peak for all GHST performed in children should be modified. Interpretation of GHST should be personalized.

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CONCLUSIONS: Maintenance immunosuppression is modified in almost half of pediatric KT recipients. Particularly, CsA conversion to Tac and young recipients' MMF modifications are common.

CONCLUSIONS: Urinary phytoestrogen biomarkers were inversely associated with serum uric acid levels and the risk of hyperuricemia, with EQU and ENT identified as the major contributing metabolites. These findings provide preliminary evidence that renal function may partially mediate the associations of EQU and ENT with uric acid concentrations and hyperuricemia risk.

Acquired hypothalamic obesity (aHO) presents as rapid, clinically relevant, and persistent weight gain due to hypothalamic damage, and leads to significant morbidity/mortality and decreased quality of life. Causes include craniopharyngioma and other space-occupying lesions, neurosurgical intervention, irradiation, and traumatic brain injury. This review summarizes the evidence and provides expert opinion on diagnostic criteria for aHO. Eight experts in neuroendocrinology and neurosurgery from...

CONCLUSIONS: In a sample of US adults with prediabetes and diabetes, we found an association between TyG-WHtR index and both all-case and CVD-related mortality. The TyG-WHtR index could serve as an alternative biomarker for the clinical management of patients with prediabetes and diabetes.

Human exposure to certain environmental chemicals, including phthalates, is linked to metabolic disruption and may thereby contribute to diseases like obesity. However, regulatory methods to evaluate such effects are lacking. DINCH was introduced as a substitute for banned phthalate plasticizers, but its primary metabolite, MINCH, has been shown to promote adipogenesis in human preadipocytes and alter the lipid metabolism of mature adipocytes. To investigate its potential metabolism-disrupting...

Podocyte injury is the primary pathology responsible for 70-90% of nephrotic syndrome (NS) in children, a condition closely associated with the aberrant expression of Angiopoietin-like-3 (ANGPTL3). The regulatory mechanism by which ANGPTL3 is upregulated during NS progression remains elusive. In this study, we found that ANGPTL3 can be regulated by Cytoplasmic polyadenylation element binding protein 2 (CPEB2) through translational control, and conversely, CPEB2 can be transcriptionally regulated...

ObjectiveThis study aimed to investigate associations between early diuretic administration following neonatal cardiac surgery and clinical outcomes.MethodsThis was a retrospective cohort study including neonates who underwent cardiac surgery within the first 30 postnatal days between September 2015 and January 2018 at 22 centers participating in the Pediatric Cardiac Critical Care Consortium (PC⁴) and Neonatal and Pediatric Heart and Renal Outcomes Network (NEPHRON) registries. Multivariable...

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Snakebite, a neglected tropical disease is a major cause of mortality and morbidity in India, despite which reliable nationwide data are limited. To address this, we carried out a survey in 25 districts across 11 states, covering a 60 million population. The community-based study was led by frontline health workers who tracked cases and deaths, while field teams collected details on the bite, the type of snake, treatment received, and costs. Data were gathered continuously for a one-year period....

Alcohol and sugar share reinforcing properties and both contribute to liver disease progression, ultimately leading to cirrhosis. Emerging evidence suggests that ethanol activates the aldose reductase pathway, resulting in endogenous fructose production. Here we investigated whether alcohol preference and alcohol-associated liver disease (ALD) are mediated through fructose metabolism by ketohexokinase (KHK)-A/C. Using global, conditional and tissue-specific KHK-A/C knockout mice, we assessed...

CONCLUSIONS: Telitacicept has exhibited both effectiveness and safety in the treatment of children diagnosed with IgAN.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

No abstract

CONCLUSION: Initiating a CRRT program in LMICs is feasible despite challenges. Creating a team with members willing to shoulder additional responsibility and training them gave impetus to our program. Tapping governmental and non-governmental support helped us circumvent financial challenges. However, in a resource limited setting, sustainability requires in-house technical and financial support. Survival to discharge was 25%, with hyperlactatemia at CRRT initiation predicting mortality.

Recent literature gives different results on morbidity and mortality after COVID-19 hospitalization as compared to Influenza. In this registry-based study in Austria, we compared the short- and long-term outcomes after COVID-19 or Influenza hospitalization and associations with their baseline medication load. Data were provided on children and adolescents hospitalized with COVID-19 (sample size: 1061) in the years 2020 and 2021 or with Influenza in 2016-2021 (sample size: 2781) as well as on...

The COVID-19 pandemic has catalyzed the application of advanced digital technologies such as artificial intelligence (AI) to predict mortality in adult patients. However, the development of machine learning (ML) models for predicting outcomes in children and adolescents with COVID-19 remains limited. This study aimed to evaluate the performance of multiple machine learning models in forecasting mortality among hospitalized pediatric COVID-19 patients. In this cohort study, we used the...

The 5th International Symposium on Regulatory Autoantibodies Targeting GPCR (RAB-GPCRs) advanced the understanding of the significant role played by autoantibodies targeting G-protein-coupled receptors (GPCRs) in various human diseases. Once considered passive markers, RAB-GPCRs are now recognized as active modulators of cellular signaling, immune regulation, and inflammation. The symposium highlighted their involvement in multiple prominent pathologies, including autoimmune diseases, cardio-...

During the COVID-19 pandemic, adenoviral vaccines drew attention owing to a potential life-threatening coagulation disorder, the vaccine-induced immune thrombotic thrombocytopenia (VITT). Patients deceased of VITT have been accepted as organ donors despite safety concerns regarding the transmission of VITT to recipients. The outcome of adult kidney graft recipients was reported favorable in most cases; however, (thrombotic) complications were observed more frequently. We present 2 pediatric...

Cystinuria, characterized by defective renal absorption of cystine causing recurrent nephrolithiasis, demands ongoing management. This study examines the effects of COVID-19-related disruptions in tiopronin availability on the clinical outcomes of pediatric cystinuria patients. This retrospective cohort study analyzed medical records of 11 pediatric patients with cystinuria, followed from 2001 to 2023. Patients were diagnosed using urine microscopy/biochemistry and stone composition analysis....

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

Chronic care manages long-term, progressive conditions, while acute care addresses short-term conditions. Chronic conditions increasingly strain health systems, which are often unprepared for these demands. This study examines the burden of conditions requiring acute versus chronic care, including sequelae. Conditions and sequelae from the Global Burden of Diseases Study 2019 were classified into acute or chronic care categories. Data were analysed by age, sex, and socio-demographic index,...

CONCLUSIONS: LC pts show more microvascular alterations at NVC as compared with RC patients and CNT, which may contribute to the pathogenesis of persistent organ/systems dysfunction.

Maintenance hemodialysis patients are at increased risk of cardiovascular complications and mortality following COVID-19 infection due to compromised immune function. This study aims to evaluate the impact of the COVID-19 vaccine (CoronaVac) on cardiac function and survival in this population. Background/Objectives: We aimed to examine whether CoronaVac vaccination affects heart function and survival rates in maintenance hemodialysis patients. Specifically, we assessed changes in heart...

CONCLUSIONS: The finalized mortality dataset for Belgrade can be safely used in COVID-19 impact analysis. Belgrade experienced a significant increase in mortality during 2020 and 2021, with most of the excess mortality attributable to SARS-CoV-2. Concerns about increased mortality from causes other than COVID-19 in Belgrade seem misplaced as their impact appears negligible.

Solid organ transplantation (SOT) is a life-saving procedure for those with end-stage organ dysfunction. The main goals of SOT are to improve quality of life and daily function, which are supported by pre- and post-transplant rehabilitation. In-person rehabilitation programs have traditionally been the standard-of-care for delivering rehabilitation for SOT patients. Many programs have adopted a virtual delivery model [telerehabilitation (TR)], an approach that has become increasingly used given...

CONCLUSIONS AND RELEVANCE: In this large US cohort study of children and adolescents, SARS-CoV-2 infection was associated with a higher risk of adverse postacute kidney outcomes, particularly among those with preexisting CKD or AKI, suggesting the need for vigilant long-term monitoring.

CONCLUSION: The nomogram offers accurate risk prediction for nephritis in children with HSP, helping healthcare professionals identify high-risk patients early and make informed clinical decisions.

ObjectivesTo evaluate disease flares and associated factors, as well as the Coronavirus disease 2019 (COVID-19) among adolescents with systemic lupus erythematosus (SLE) after receiving COVID-19 vaccination. Additionally, it sought to determine any difference in year-on-year flare rates before and after vaccination.MethodsWe conducted a 12-month prospective study in adolescent SLE (adoSLE) patients aged 12-18 years who had no prior history of COVID-19 and received a 2-dose BNT162b2 mRNA COVID-19...

CONCLUSIONS: A fourth dose of BNT162b2 was immunogenic and safe in children with CKD.

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

Severe cardiovascular involvement is associated with mortality in multisystem inflammatory syndrome in children (MIS-C). This study aimed to test a previously published cardiogenic shock risk score at diagnosis of MIS-C and build a new screening tool in a larger pediatric cohort. The first score published in a single-center cohort (age > 8 years, time to diagnosis ≥ 6 days, and NT-proBNP at diagnosis ≥ 11.10³ ng/L) was tested in a multicenter cohort of pediatric patients diagnosed with MIS-C...

In December 2021, the Federal Drug Administration (FDA) approved emergency use authorization of nirmatrelvir-ritonavir (Paxlovid) to prevent serious SARS-CoV-2 infections in high-risk patient populations. We present the case of a 16-year-old male with steroid-resistant nephrotic syndrome who developed tacrolimus toxicity after initiation of Paxlovid therapy. The ritonavir component strongly inhibits CYP3A4 enzymes, thereby leading to the accumulation of tacrolimus in the blood. This patient's...

BackgroundCurrently, there are limited studies on the adaptation of medical university students and the factors influencing their adaptation.ObjectiveThis study aims to evaluate the adaptation status of medical university students, identify the variables influencing their adaptation, and propose scientific methods and strategies for managing their adaptation process.MethodsA convenient cluster sampling method was used to select 1121 students from a medical university in China. The participants...

CONCLUSIONS: Additional doses of the COVID-19 vaccine bolstered durable serologic responses in pediatric kidney transplant recipients, and this study broadens our understanding of immune responses to COVID-19 vaccinations in this population.

Viral infections in the first year of life are associated with islet autoimmunity and type 1 diabetes risk. The Anti-Viral Action against Type 1 Diabetes Autoimmunity (AVAnT1A)- study is a clinical phase IV investigator initiated, randomised, controlled, multicentre, primary prevention trial conducted to determine whether vaccination against COVID-19 from 6 months of age reduces the cumulative incidence of islet autoantibodies or type 1 diabetes in children with elevated genetic risk....

CONCLUSION: A significant proportion of parents were hesitant to vaccinate their children with SLE against COVID-19. These insights underscore the importance of developing targeted educational interventions to address specific parental concerns and improve vaccine uptake in children with SLE.

Coronavirus disease 2019 (COVID-19) presents a wide spectrum of symptoms, the causes of which remain poorly understood. This study explored the associations between autoantibodies (AABs), particularly those targeting G protein-coupled receptors (GPCRs) and renin‒angiotensin system (RAS) molecules, and the clinical manifestations of COVID-19. Using a cross-sectional analysis of 244 individuals, we applied multivariate analysis of variance, principal component analysis, and multinomial regression...

The coronavirus disease 2019 (COVID-19) pandemic, instigated by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has profoundly impacted healthcare infrastructures around the globe. While children are usually asymptomatic or have mild symptoms, children with pre-existing kidney conditions require specialized attention. This pivotal report, championed by the International Pediatric Nephrology Association (IPNA), delivers precise and actionable recommendations tailored for...

Objective Patients who do not wait (DNW) to be seen are a problem for emergency department (ED) care. The aim of this study was to identify the rate and reasons of DNW patients during 1month of the COVID-19 pandemic. Methods An observational cohort study of DNW patients presenting to Austin Hospital ED was carried out in August 2021. Patients were identified using hospital coding data and surveyed by telephone. DNW patients' reasons were explored, and their demographics and clinical outcomes...

CONCLUSIONS: COVID-19 in neonates with PPHN is challenging and may be associated with increased mortality, severity, ICU admission, ARDS, MIS-N, and MV usage. The results should be interpreted with caution owing to the small number of studies and substantial heterogeneity and indicate a need for future research in this area. Due to its benefits, testing for SARS-CoV-2 should be encouraged for newborns with symptoms consistent with COVID-19, especially in neonates with a history of SARS-CoV-2...

OBJECTIVE: Compare the prevalence and severity of anxiety and depression among people with epilepsy (PWE) evaluated by telemedicine during the initial stages of the COVID-19 pandemic and follow up on their status 15 months later.

CONCLUSIONS: Our data emphasized the significant effect of viral infections on pediatric kidney transplant recipients. Early diagnosis and treatment in kidney transplant recipients are important, and clinicians should be alert.

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Background/Objectives: Gestational diabetes mellitus (GDM) can lead to various complications for both the mother and the child. Many factors influence the onset of the disease including GDM in a previous pregnancy, overweight and obesity, as well as the increasing age of women who become pregnant. The aim of this study was to assess the impact of telemedicine during the COVID-19 pandemic on diabetes management and pregnancy outcomes in women with gestational diabetes mellitus (GDM). Methods: A...

CONCLUSIONS: Pediatric patients with rheumatic diseases exhibited a wide range of clinical symptoms after COVID-19 infection. The infection generally did not lead to severe outcomes in this study. COVID-19 vaccination was associated with reduced hospitalization risk and expediting the time to negativity for virus.

CONCLUSIONS: Delirium and subsequent NCD are not more frequent in COVID-19 as compared to SARS-CoV-2 negative patients with acute respiratory tract infections. Consistently, biomarker levels of brain injury indicated no differences between COVID-19 cases and SARS-CoV-2 negative controls. Our data suggest that delirium in COVID-19 does not distinctly trigger substantial and persistent subsequent NCD compared to patients with other acute respiratory tract infections.

CONCLUSIONS: Severe acute COVID-19 in children leads to a higher PPCC prevalence than in mild cases. PPCC prevalence decreases over time. Risk factors at three months include prior medical history, hospital admission, and persistent fatigue one month after a positive test.

CONCLUSION: Patients with cSLE showed robust humoral but compromised cellular immune responses to the COVID-19 mRNA vaccine, associated with lower lymphocyte counts. These findings highlight the need for further research to enhance vaccine efficacy in this vulnerable group.

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

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

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

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

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...

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

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

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

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

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

Fibrillary glomerulonephritis (FGN) is characterized by a severe renal prognosis. There is not uniformity of consensus regarding therapeutic treatment. Several reports on the effectiveness of rituximab have been published, but showed different rate of renal response. This paper aims to evaluate the clinical and histological effects of two rituximab-based regimens in fibrillary glomerulonephritis. Twenty-one patients with diagnosis of FGN managed in a single Center (1996-2023), were identified....

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

CONCLUSIONS: Patients with CKD with low educational levels and incident CVD may represent a 'syndemic', associated with higher mortality and ER acuity. Our study highlights a potential link between these conditions and socioeconomic disparities, suggesting the need for multifaceted approaches.

The transition from a comorbidity-based to a multimorbidity-focused to ultimately a network medicine approach in people with rheumatic diseases might mark a significant shift in how we understand and manage these complex conditions. Multimorbidity expands on the concept of comorbidity by encompassing the presence of multiple diseases, which results in further individual and societal impacts. This approach, while valuable, often leads to fragmented care focused on individual diseases rather than...

CONCLUSION: Collaboration between European collaborative national networks and US-network I-ACT for Children has supported site identification of global pediatric clinical trials. This illustrates one method for the importance of early engagement with sponsors and implementation of effective communication systems.

CONCLUSION: This survey shows that the practice of paediatricians and general practitioners are in accordance with the new recommendations for vitamin D supplementation in very young children. The identification by this survey of knowledge gaps will allow targeted information campaigns.

Rare kidney diseases encompass a wide range of congenital, inherited and acquired conditions. Two million Europeans are affected by rare kidney diseases. The European Rare Kidney Disease Reference Network (ERKNet) aims to improve the clinical management of patients with these diseases. ERKNet encompasses 95 highly specialized adult and pediatric nephrology units at 72 sites in 24 European Union (EU) member states, as well as a group of patient advocates (European Patient Advocacy Group, ePAG)....

CONCLUSION: This study revealed substantial variation in clinical practices among European centres performing pediatric kidney transplantations. These findings could serve as a stimulus for international dialogue and collaboration.

The discovery of the target antigen M-type phospholipase A2 receptor (PLA2R) with the possibility to detect anti-PLA2R antibodies in serum as well as the identification of several other antigens, overall accounting for almost all cases of membranous nephropathy, paved the way to a revolutionary change in the classification of membranous nephropathy. Serum anti-PLA2R autoantibody titers have been found to be highly specific diagnostic and prognostic biomarkers. Therefore, a positive test for...

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CONCLUSION: When we analysed aPL-positive patients with no other SARDs, ANA status was not associated with thrombosis or pregnancy morbidity. Interestingly, ANA+ patients showed higher rates of systemic autoimmune features, including haematologic manifestations, multiple aPL positivity, lower complement levels, ENA positivity, and joint involvement, and were more often treated with HCQ. Finally, aPL-positive subjects who were ANA- had a higher rate of pregnancies and live births.

CONCLUSIONS: Bone density and microarchitecture at the time of KTx were superior compared to HC, but radial trabecular bone microarchitecture impairment observed 6 months post-KTx may reflect subtle albeit present post-KTx CKD-MBD. What is Known? • Mineral bone disorder associated with chronic kidney disease (CKD-MBD) frequently persists after kidney transplantation (KTx) and is associated with morbidity. However, biochemical parameters and dual X-ray absorptiometry (DXA) are poor predictors of...

CONCLUSION: In infants and young children with PH1, long-term lumasiran treatment resulted in sustained reductions in urinary and plasma oxalate that were sustained for 30 months, with an acceptable safety profile. Kidney function remained stable, low kidney stone event rates were observed through Month 30, and nephrocalcinosis grade improvements were observed through Month 24.