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

No abstract

No abstract

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...

No abstract

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.

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

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

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

No abstract

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

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

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

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

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

Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic cause of renal failure worldwide. ADPKD is a multisystem and progressive inherited disorder with renal cyst formation, kidney enlargement, and extrarenal organ involvement (eg, liver, pancreas, spleen, cardiac, and arachnoid membranes).

CONCLUSIONS: The review and cases emphasise the importance of early genetic testing in paediatric renal anomalies, the necessity of multidisciplinary surveillance even in asymptomatic individuals, and the relevance of 17q12 deletion as a model of variable expressivity in genomic medicine.

Background: Survivors of childhood brain cancer survivors (CBCS) have a higher risk of endothelial dysfunction and cardiovascular mortality. Recombinant human growth hormone (rhGH) replacement therapy may help reduce endothelial damage and the development of cardiovascular diseases (CVD). This study aimed to assess biochemical and biophysical endothelial function in CBCS with GH deficiency (GHD). Methods: CBCS who were at least two years post-treatment underwent clinical evaluation, including...

CONCLUSION: Patients diagnosed with chronic kidney disease during the pediatric period demonstrate an elevated risk of cardiovascular complications from the time of diagnosis onwards. A possible correlation between reduced bone mineral density in these patients and cardiovascular events represents another factor that increases mortality and morbidity.

CONCLUSIONS: These findings provide new insights into GS, highlight disease burden, and suggest areas for future research.

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.

Background: Free thyroxine (FT4) reference intervals (RIs) provided by many laboratories do not adequately represent the differences in FT4 levels observed across age groups, limiting their usefulness in the diagnosis and management of disease, most particularly at the extremes of age. Interpretive criteria specific to neonates, young children, and older adults are rarely provided. This work was undertaken to develop comprehensive age-based RIs from birth to age 100 to provide clinicians with...

CONCLUSIONS: Involvement of the MSK system is a common morbidity in children with hemodialysis. Calcium × phosphate product (p = 0.026) and vitamin D level (p = 0.003) were the most significant factors associated with MSK pain in multivariate regression analysis.

No abstract

Diagnosing nutcracker syndrome can be challenging, particularly when symptoms are suggestive of more common conditions. In such cases, the syndrome is often not considered as an initial differential diagnosis. We report the case of a 30-year-old woman with a history of microhematuria since childhood as well as previous episodes of macrohematuria, abdominal pain and urinary tract infections. As her mother, sister and other relatives are affected by Alport syndrome and chronic kidney disease, this...

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

Congenital anomalies of the kidneys and urinary tract (CAKUT) are developmental disorders that commonly cause pediatric chronic kidney disease and mortality. We examine here rare coding variants in 248 CAKUT trios and 1742 singleton CAKUT cases and compare them to 22,258 controls. Diagnostic and candidate diagnostic variants are detected in 14.1% of cases. We find a significant enrichment of rare damaging variants in constrained genes expressed during kidney development and in genes associated...

Epidermolysis bullosa (EB) is a rare, heterogeneous, hereditary, chronic skin disorder with severe cutaneous and extracutaneous involvement. With the significant increase in survival of EB patients, kidney complications have become more common. Among the EB subtypes, recessive dystrophic epidermolysis bullosa (RDEB) is associated with the development of amyloidosis. Secondary amyloidosis affecting the kidneys in RDEB is fatal due to its rapid progression and difficulty in dialysis. Herein, we...

BACKGROUND: Hypertension affects 6% of all children and adolescents, is increasing in prevalence, and is associated with adverse cardiovascular outcomes. In childhood chronic kidney disease, hypertension is associated with progression to kidney failure. However, direct evidence linking childhood hypertension with long-term adverse kidney outcomes is scarce. We aimed to determine the long-term risk of major adverse kidney events (MAKEs) among children and adolescents diagnosed with hypertension.

Karyomegalic interstitial nephritis (KIN) is a rare hereditary form of chronic interstitial nephritis that was first described over 50 years ago. It is characterized by karyomegalic tubular epithelial cells and progressive chronic kidney disease, often leading to end-stage renal disease by the fifth decade of life. Recent studies have identified FAN1 mutations as a key genetic contributor, with additional associations to environmental factors and toxic exposures, such as ochratoxin A, alkylating...

CONCLUSION: SM still carries a significant risk of increased mortality, the need for dialysis, and mechanical ventilation support. The first 24 h after admission, as well as the shock, are determinants of increased mortality.

Congenital anomalies of the kidney and urinary tract (CAKUT) are a common cause of chronic kidney disease in children. Most patients will reach end-stage renal function and dialysis or transplantation in childhood or early adulthood. Patients with CAKUT deserve a careful evaluation before a kidney transplant; detailed imaging and functional studies are necessary, particularly in the presence of lower urinary tract abnormalities, and surgical procedures are advisable in selected cases. A higher...

Autosomal recessive polycystic kidney disease (ARPKD) is a congenital hepatorenal fibrocystic pathology and is one of the most significant childhood nephropathies leading to chronic kidney disease (CKD). While kidney damage has been well studied in this pathology, only a few studies have investigated specific cardiac damage during ARPKD. This study aimed to conduct a large analysis of heart dysfunction during the progression of CKD. ARPKD rats with the Pkhd1 gene mutation (IVS35-2A>T) were...

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.

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

Time to remission (TTR) has been largely considered one of the predictive factors for the risk of relapse and steroid dependency in childhood steroid-sensitive nephrotic syndrome, yet conflicting opinions exist. However, the factors influencing TTR have never been studied. We performed a post-hoc analysis of the prospective pediatric cohort enrolled in a previous multicenter study (ClinicalTrials.gov Id: NCT01386957) to evaluate the possible influence of some clinical and laboratory parameters...

No abstract

CONCLUSION: Our study highlights KT access disparities particularly for females, the youngest recipients, high-risk age (15-19 years), and diseases with recurrence risk. Notably, pre-emptive transplants and enduring previous grafts offer advantages regarding re-transplantation.

CONCLUSION: Type B lactic acidosis in aggressive malignancies indicates a poor prognosis. In such cases, as in our case, lactic acidosis improves only with appropriate and sufficient chemotherapy, and its improvement is an important indicator that the case is responsive to treatment.

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.

CLINICAL CHARACTERISTICS: Fabry disease is the most common of the lysosomal storage disorders and results from deficient activity of the enzyme alpha-galactosidase A (α-Gal A), leading to progressive lysosomal deposition of globotriaosylceramide and its derivatives in cells throughout the body. The classic form, occurring in males with less than 1% α-Gal A enzyme activity, usually has its onset in childhood or adolescence with periodic crises of severe pain in the extremities (acroparesthesia),...

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

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

CONCLUSION: Kidney injury poses a risk in cases following nephrectomy, with hyperfiltration, treatment toxicity and immune effects contributing to the condition. Early detection and management are essential for kidney preservation.

Prophylactic anticoagulation (PAC) is used to reduce the risk of thrombosis in patients with nephrotic syndrome (NS), yet the optimal agent remains uncertain. This systematic review and meta-analysis compare the efficacy and safety of direct oral anticoagulants (DOACs) versus standard-of-care (SOC; heparins or cumarins) for thromboprophylaxis in NS. We systematically searched PubMed, Cochrane Library, Web of Science, and MEDLINE from inception to June 2025. Five cohort studies involving 399...

No abstract

No abstract

PURPOSE OF REVIEW: Tight junctions formed by claudins regulate paracellular permeability to sodium, chloride, calcium, magnesium, and water along the nephron, thereby enabling energy-efficient reabsorption of glomerular filtrate that limits tubular oxygen consumption.

Adriamycin (ADR)-induced nephrotic syndrome (NS) is a common renal disease model characterized by proteinuria, glomerular damage, and inflammatory responses. Baicalin, a bioactive flavonoid derived from Scutellaria baicalensis, demonstrates anti-inflammatory and anti-fibrotic properties. This study aims to investigate whether baicalin alleviates ADR-induced NS by regulating the transforming growth factor-beta (TGF-β)/Smad signaling pathway and the NOD-like receptor family, pyrin...

Pathogenesis of post-transplant diabetes mellitus (PTDM) in renal transplantation is not well established, but both IR and insulin deficiency are necessary for the appearance of PTDM. β-cell dysfunction is not the only player in the pathogenesis of diabetes; insulin resistance (IR) is also a risk factor for the development of T2DM in the general population. Generally, IR is highly prevalent in renal transplant recipients. Calcineurin inhibitors are still the mainstay of immunosuppression and can...

Idiopathic nephrotic syndrome is the most common glomerulopathy in children, and minimal change disease (MCD) is the most common histological pattern. First-line treatment involves glucocorticosteroids, but frequent relapses and steroid dependence may lead to steroid-related complications. Rituximab (RTX) is recommended in cases of lack of response or treatment side effects, reducing relapse rates and limiting the need for other medications. The mechanism of RTX involves B-cell depletion through...

Diuretics are a cornerstone of supportive therapy in pediatric patients, widely used for the management of edema, fluid overload, hypertension, and various other kidney diseases. Their clinical utility, however, is strongly influenced by developmental differences in kidney physiology, age-related pharmacokinetics, underlying kidney disease, and the risk of adverse effects unique to children. This review presents an extensive, evidence-informed synthesis of diuretic therapy in pediatric kidney...

This case illustrates the possible interplay between autoimmunity, chronic antigenic stimulation, cryoglobulinemic vasculitis, and lymphoproliferative disorders. The patient's progression from myasthenia gravis and total thymectomy to systemic lupus erythematosus, cryoglobulinemic vasculitis, and marginal zone lymphoma demonstrates a continuum of immune dysregulation. Total thymectomy may impair central tolerance, predisposing to secondary autoimmunity and chronic B-cell activation. A...

Immunotactoid glomerulopathy (ITG) is a rare glomerular disease characterized by organized microtubular deposits and is frequently associated with hematologic malignancies. Diagnosis is typically supported by IgG-positive staining on immunofluorescence together with characteristic ultrastructural findings on electron microscopy. However, diagnostic difficulties may arise when immunofluorescence findings are atypical. We report the case of an 82-year-old woman who presented with nephrotic...

No abstract

No abstract

CONCLUSION: Non-inferiority was not reached for the combined intervention with lower dose prednisolone and alfacalcidol compared to standard prednisolone treatment. But the combined treatment offers a safer alternative to high-dose prednisolone for treatment of MCD, with similar efficacy but fewer serious adverse events and reduced glucocorticoid toxicity.

Although rifampicin is one of the main drugs in the treatment of tuberculosis, its potential for causing nephrotoxic reactions may lead to renal injury. In this paper, we present a 23-year-old man who was treated for pulmonary tuberculosis and who developed a nephrotoxic syndrome caused by rifampicin. This syndrome was defined by abdominal distension due to fluid retention, swelling in both legs, nephrotic range proteinuria and biopsy findings showing tubular atrophy and interstitial fibrosis....

To clarify the genetic classification, diagnostic strategies, and precision treatment pathways of steroid-resistant nephrotic syndrome (SRNS), this review systematically reviews the genetic stratification system of SRNS by integrating recent advances in genetic testing technologies and pathogenesis research. It contains the pathogenic mechanisms, diagnostic protocols, and therapeutic correlations of different genetic subtypes, while summarizing current progress and clinical challenges in gene...

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

CONCLUSIONS: The significant heterogeneity in outcome definitions and ITI protocols complicates the assessment of treatment efficacy. The high incidence of adverse events demands careful management strategies. Standardizing outcome definitions and ITI protocols is crucial to optimize patient management and improve outcomes.

Glomerulonephritides (GNs) are inflammatory diseases of the glomeruli and may have primary or secondary causes. They frequently present as nephrotic or nephritic syndrome, and sometimes only as asymptomatic proteinuria or glomerular hematuria. Given that clinical presentations overlap and the underlying etiologies are diverse, kidney biopsy remains the gold standard for establishing the diagnosis, classification, and prognosis. Approximately two-thirds of GNs are primary and one-third secondary,...

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

A man in his 80s had been taking atorvastatin for 2 months for hyperlipidaemia. Due to the recurrence of nephrotic syndrome, methylprednisolone, torasemide, benidipine and atorvastatin were prescribed after admission to hospital. While his dyspnoea and oedema improved with diuretic therapy, the patient reported significant muscle soreness 8 days after starting the combined atorvastatin and methylprednisolone. Simultaneously, creatine kinase and myoglobin levels increased significantly. The...

CONCLUSION: This case contributes to the growing evidence supporting rituximab's therapeutic potential in adult FSGS, while highlighting the need for randomized controlled trials to establish its efficacy and optimal use in this challenging patient population.

CONCLUSION: IgAN affects young individuals with diverse symptoms and rapid progression. In Western India, most patients present late, highlighting the need for early diagnosis and routine screening to improve outcomes.

Renal clear cell carcinoma (RCC), the predominant subtype of kidney cancer, is characterized by paraneoplastic syndromes, of which membranous nephropathy (MN) represents the most common paraneoplastic glomerulonephritis. While phospholipase A2 receptor (PLA2R) antibodies indicate primary MN, the concurrent presence of light-chain amyloidosis may further complicate the clinical manifestations in malignancy-associated cases. A rare case of RCC concurrent with phospholipase A2 receptor...

Primary glomerulonephritides are inflammatory diseases primarily targeting the glomeruli. Clinically, patients may present with glomerular hematuria and a nephritic urinary sediment and/or with high levels of proteinuria and nephrotic syndrome. Arterial hypertension is also frequently observed in these patients. Although these diseases often lead to loss of renal function, clinical symptoms may be very mild, or even absent in the early stages. Early diagnosis and timely initiation of therapy are...

No abstract

No abstract

The objective is to serve as a descriptive and educational report regarding the case of an eight-year-old spayed mixed-breed cat with nephrotic-range tubular and glomerular lesion, with no history of prior medication use or comorbidities, the main complaint being prostration and sudden weight gain. Physical examination revealed anasarca, moderate dyspnea and paradoxical breathing. Imaging tests revealed bicavitary effusion and subcutaneous edema. Laboratory analyses revealed serum creatinine...

C3 glomerulopathy is an ultra-rare kidney disease driven by dysregulation of the alternative complement pathway fluid phase C3 convertase. We report the case of a previously healthy 13-year-old girl who presented with concurrent nephrotic and nephritic syndrome and low complement C3. Her initial kidney biopsy surprisingly showed mesangioproliferative glomerulonephritis with dominating IgA deposits resulting in a diagnosis of IgA nephropathy. Despite standard immunosuppressive treatment with...

CONCLUSION: RTX exerts a suspensive rather than curative effect in SD/FRNS. Prolonged B-cell depletion extends relapse-free survival but is associated with more frequent hypogammaglobulinemia, without an increase in severe infections.

CONCLUSION: In this propensity score-matched multicenter cohort, an exposure-optimized strategy combining interval RTX dosing, structured glucocorticoid tapering, and TDM-guided redosing was associated with higher and earlier remission, deeper immunologic response, and lower relapse compared with the standard RTX monotherapy.

Patient- and Family-Centered Care (PFCC), an evolving healthcare model, places patients and their families at the center of care, promoting collaboration between healthcare providers and families. We report the case of a 5-year-old boy with autism spectrum disorder (ASD) who required emergency hospitalization for nephrotic syndrome. Severe anxiety and behavioral difficulties hindered routine medical procedures. Applying the PFCC approach, a multidisciplinary team-including a child psychiatrist...

INTRODUCTION: Podocytopathies such as minimal change disease (MCD) and focal segmental glomerulosclerosis (FSGS) remain therapeutic challenges in adults. Although corticosteroids and rituximab (RTX), a chimeric anti-CD20 monoclonal antibody, are effective in most patients, up to 10% show resistance or relapse despite B-cell depletion. Obinutuzumab (OBZ), a humanized type II anti-CD20 monoclonal antibody, achieves deeper and more sustained B-cell depletion and may overcome RTX inadequate...

CONCLUSION: IST affects IgAN phenotypes differently: AUA patients, with minimal IST, achieved the highest remission and longest time to renal decline, while nephritic and nephrotic groups, receiving more IST, progressed faster. These findings advocate phenotype-tailored IST and long-term follow-up, and highlight the need for MEST-C in future studies to standardise risk assessment.

CONCLUSIONS: Pediatric CD with renal involvement included proteinuria, nephrotic syndrome, acute nephritis, and acute renal failure. Renal involvement occurred simultaneously with CD and improved rapidly in all patients after etiological treatment of CD and immunosuppressants.

CONCLUSION: Cancer survival outcomes are potentially limited by fatal later effects of treatment, psychological impacts, or comorbidities from conditions that may predispose to kidney cancers. Potential survivorship strategies could include expanded genetic screening, increased use of nephron-sparing approaches, adoption of less toxic treatment regimens, enhanced monitoring for low-stage disease, and incorporation of routine psychological support.

No abstract

CONCLUSION: Hypogammaglobulinemia is a common side effect of rituximab that can result in life-threatening infections. The risk of hypogammaglobulinemia and infections should be weighed against the effectiveness of rituximab for nephrotic syndrome management. Prospero registration: CRD42024536465.

CONCLUSION: This real-world study shows that greater adherence to RCI during treatment improves overall outcomes studied.

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

Membranous nephropathy (MN) is a common glomerular disease leading to nephrotic syndrome in adults, clinically characterized by massive proteinuria, hypoalbuminemia, and prominent hyperlipidemia. Growing evidence suggests that hyperlipidemia is not merely a secondary consequence of MN, but may also play a critical role in the pathogenesis and progression of MN. This review specifically focuses on hyperlipidemia in MN-rather than nephrotic dyslipidemia in general-to clarify its distinct...

Nephrotic syndrome in children is a frequent glomerular disorder characterized by heavy proteinuria, hypoalbuminemia, edema, and dyslipidemia, most commonly caused by minimal change disease. Although corticosteroids remain the first-line therapy, variable treatment responses and the growing prevalence of steroid-resistant cases underscore the need for improved therapeutic strategies. The pathogenesis involves podocyte injury, immune dysregulation, and genetic susceptibility, highlighting the...

CONCLUSION: DN with concurrent primary podocytopathy represents a distinct clinical entity characterized by nephrotic-range proteinuria, ultrastructural podocyte effacement, and favorable response to immunosuppressive therapy. Early renal biopsy incorporating FPW assessment enables targeted therapy to mitigate ESKD progression in this high-risk phenotype.

CONCLUSION: This case highlights CMV viremia as an important and potentially reversible cause of anasarca in post-liver transplant patients, likely mediated by CMV-induced endothelial dysfunction. Recognition of CMV-related fluid retention is essential to avoid unnecessary invasive procedures and to guide timely antiviral therapy in immunosuppressed individuals.

A woman in her 30s presented with generalised swelling and a right occipital-temporal headache. Examination showed grade 4 papilloedema, and magnetic resonance venography revealed thrombosis of the right transverse and sigmoid sinuses extending into the internal jugular vein. Laboratory evaluation demonstrated anaemia, thrombocytopenia, severe hypoalbuminaemia, low complement levels and strongly positive serology for systemic lupus erythematosus (SLE), with a negative antiphospholipid profile....

Alport syndrome is a genetic disorder of chronic kidney disease, hearing loss, and ocular abnormalities, caused by mutations in type IV collagen. While X-linked Alport Syndrome demonstrates characteristic severe renal failure in males, it has a variable presentation in females. Here, we present a case of a pregnant woman who was found to have X-linked Alport Syndrome with a heterozygous c.3587G>A (p.Gly1196Glu) mutation in the COL4A5 gene. The patient presented in her third trimester of...

CONCLUSIONS: TIN was the most common kidney finding but had a poor treatment response. Many biopsies were non-diagnostic. Early kidney surveillance in pediatric IBD may aid in the timely detection and management of kidney disease.

Milky or "white" urine is usually attributed to chyluria but may also result from lipid-rich proteinuric urine or crystals ("pseudochyluria"). We describe a 47-year-old woman with a 6-month history of intermittent white urine, bilateral edema, nephrotic-range proteinuria (20.3 g/24 h), preserved renal function, near-normal serum albumin, and chronic bronchiectasis. Evaluation for parasitic and non-parasitic chyluria, tuberculosis, and systemic amyloidosis was repeatedly negative. A fasting urine...

CONCLUSIONS: This technical report suggests that native ureteral ligation at pediatric kidney transplantation is feasible in selected patients but represents an empirical, non-standard-of-care approach. Prospective comparative studies are needed to refine patient selection and assess long-term outcomes.

CONCLUSIONS: This case highlights the importance of recognizing pseudo-renal failure as a differential diagnosis of unexplained azotemia, particularly in patients with recent pelvic surgery. The coexistence of elevated serum creatinine with relatively preserved cystatin C, ascites, hyponatremia, and nephrotic-range proteinuria should raise suspicion for urinary tract injury. Measurement of ascitic fluid creatinine and CT cystography are key diagnostic tools for genitourinary trauma that can...

CONCLUSIONS: Survival after isolated LT in children with CF is equivalent to non-CF patients; however, waiting list mortality is higher. Adults with CF experience longer waiting times and shorter time to waiting list mortality.

Delayed graft function (DGF) in pediatric kidney transplantation is a serious complication with negative impact on graft survival. Currently, there are no reliable methods available to assess the risk of DGF in children. We performed a retrospective analysis of data from the Cooperative European Paediatric Renal Transplant Initiative (CERTAIN) registry to develop a DGF risk assessment model for pediatric kidney transplantation, based on parameters available within the first 24 h post-transplant....

CONCLUSIONS: Childhood DCM is associated with adverse health and increased health care utilization even into adulthood. While echocardiographic normalization and routine treatments are associated with improved prognosis, some patients may relapse after recovery.

CONCLUSION: Our findings highlight key clinical and therapeutic determinants of mortality and survival in patients with CRAB bacteraemia, providing valuable insights for improving the management of this challenging infection.

CONCLUSIONS: Elevated rates of psychosocial risk in pediatric SOT continue to persist; therefore, standardized clinical assessments to identify potentially adverse SDOH or healthcare barriers are necessary to provide individualized support. Implementing routine screening with appropriate referrals is a crucial step in addressing SDOH disparities throughout the transplant process.

Pathogenesis of post-transplant diabetes mellitus (PTDM) in renal transplantation is not well established, but both IR and insulin deficiency are necessary for the appearance of PTDM. β-cell dysfunction is not the only player in the pathogenesis of diabetes; insulin resistance (IR) is also a risk factor for the development of T2DM in the general population. Generally, IR is highly prevalent in renal transplant recipients. Calcineurin inhibitors are still the mainstay of immunosuppression and can...

China's growing healthcare system, serving over 1.4 billion people, has witnessed remarkable progress in organ transplantation, including among pediatric patients. This review provides a comprehensive overview of pediatric transplantation in China, summarizing national trends, regulatory frameworks, clinical outcomes, and ongoing challenges. Data were obtained from the Report on Organ Donation and Transplantation in China (RODTC) between 2015 and 2024. Pediatric patients were defined as those...

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

CONCLUSIONS: RRS assessment and guided treatment with methylene blue provide two lines of evidence indicating that mitochondrial hyperoxidation, specifically at complex III, is a critical mechanism underlying warm ischemia-reperfusion injury. This study demonstrates the potential of RRS for transplantation and broader applications.

CONCLUSION: Our study highlights the importance of close follow up of NC patients and expands the mutational spectrum of CTNS gene, as two novel mutations are identified in two unrelated families.

Papillary urothelial carcinoma (UC) is rare in the pediatric population, with its presentation and etiology differing significantly from adults, posing unique diagnostic challenges. This case report describes a 10-year-old female with abdominal pain and microscopic hematuria. Ultrasonography identified a hypoechoic lesion, and subsequent cystoscopy confirmed a 1 cm exophytic tumor. Histopathology revealed a papillary UC with focal lamina propria invasion. The postoperative course was uneventful...

CONCLUSION: The case highlights the challenges associated with transplantation in a young child compounded with additional risks posed by ASD.

Focal segmental glomerulosclerosis (FSGS) is one of the major causes of nephrotic syndrome, which can progress to end-stage renal disease, leading to kidney transplantation. Following renal transplantation, recurrence of FSGS (rFSGS) occurs in 30%-40% of patients with a high risk of graft loss. rFSGS typically presents with nephrotic-range proteinuria within days after post-transplantation. This review summarizes pathophysiology, biomarkers, and therapeutic strategies for rFSGS. Monogenic causes...

Optimal valganciclovir dosing for cytomegalovirus (CMV) prophylaxis in pediatric solid organ transplant recipients remains difficult due to variable pharmacokinetics. This study compared the efficacy and safety of three dosing strategies: body surface area (BSA)-based, weight-based, and Pescovitz algorithm-based dosing. This retrospective cohort study included pediatric patients aged ≤14 years who underwent kidney or liver transplantation between 2010 and 2018 and received valganciclovir for CMV...

Background: Pediatric kidney failure, whether acute or chronic, constitutes a major public health issue because of its impact on survival, linear growth, neurocognitive development, and long-term quality of life. While high-income countries have markedly improved outcomes through early diagnosis, advanced dialysis technologies, and kidney transplantation, management remains limited in low- and middle-income countries, particularly in the Maghreb region. Objective: This review aims to provide an...

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

CONCLUSIONS: MS is common in hypertensive children, particularly those with primary HT. Including UA in MS criteria may enhance prediction of HMOD, especially LVH.

Predicting survival outcomes is 1 of the most crucial tasks that nephrologists face. On an individual level, predicted survival times affect all aspects of decision-making, including the initiation of dialysis or the consideration of transplantation. On a larger scale, interventions and therapeutics are often based on the perceived probability or survival within particular cohorts. An understanding of the concepts involved in survival analysis helps clinicians appreciate the complexity involved...

CONCLUSIONS: The associations between age at transplant, heart transplantation, and type of insurance with under-immunization warrant further investigation to address modifiable gaps in vaccine coverage and ensure pediatric SOT recipients are optimally protected from VPD.

Modulation of miRNA expression in glomerular cells is associated with renal disease. Here, we investigated the role of miR-93-5p in mitigating glomerular damage in Alport syndrome and whether the disease-modifying activity of extracellular vesicles from human amniotic fluid stem cells (hAFSC-EVs) is mediated by their miR-93-5p cargo. We identified downregulation of miR-93-5p specifically in glomerular endothelial cells in Alport syndrome along disease progression. Silencing of miR-93-5p in...

Steroids have been a foundation of immunosuppressive regimens in solid organ transplantation. However, long-term steroid exposure is associated with a number of adverse effects that increase patient morbidity and mortality, contribute to patient nonadherence, and add significant economic burden. Avoidance of prednisone (AoP) minimizes prednisone-related complications but potentially increases the risk of acute rejection and decreases graft survival. We conducted a narrative review of the risks...

CONCLUSIONS: Among people receiving dialysis, the symptom and treatment burdens, lack of workplace accommodations, and discrimination all compromised sustained employment. Conversely, supportive workplaces that implemented tailored occupational adjustments enabled work participation, thereby boosting psychosocial well-being. Workplace advocacy and flexible work arrangements, symptom management, and aligning dialysis modality choices and timing with work demands may help to improve participation...

CONCLUSION: Our single-center experience demonstrates the feasibility and effectiveness of a high-volume KPD program in overcoming immunologic barriers to kidney transplantation. Strategic inclusion of compatible pairs, ABO quasi-compatible matching, low-risk HLA-incompatible, and ABO-incompatible matchings significantly increased access for difficult-to-match recipients. This model may serve as a replicable framework for other high-capacity transplant centers seeking to expand transplant access...

CONCLUSION: CYP3A5 genotyping remains valuable for optimizing initial tacrolimus dosing, while ABCC2 polymorphisms, particularly rs2273697, contribute to tacrolimus C0-IPV during the first post-transplant year. Personalized dosing strategies using pharmacogenetic data could improve tacrolimus exposure stability. Larger studies with extended follow-up are needed to assess the long-term clinical implications of these findings.

CONCLUSION: Abnormal ultrasound findings were common after pediatric kidney transplantation, particularly in the early postoperative period. Baseline abnormalities were associated with poorer long-term graft survival, which may reflect perioperative complications or early allograft injury. This supports the clinical value of baseline ultrasound for early risk stratification and guiding the follow-up intensity.

No abstract

CONCLUSION: Providers recognize the importance of HCT and the joint responsibility of PP and AP but have difficulty following best practices. A multipronged approach will be necessary to address barriers. Our survey reminds us of the gap that persists in providing AYAs with a seamless transfer from pediatric to adult care.

Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive disorder of purine metabolism causing 2,8-dihydroxyadenine urinary tract stones and crystal nephropathy. Disease manifestations include acute kidney injury (AKI), progressive chronic kidney disease (CKD), and not infrequently, kidney failure. A significant proportion of affected individuals remain asymptomatic into adulthood. The diagnosis of APRT deficiency should be considered in all children presenting with...

Transplantation is an effective therapeutic option to improve quality of life in patients with severe methylmalonic acidemia (MMA). However, data regarding neurological complications following transplantation remain limited. A retrospective, single-center study was conducted at Necker Hospital (France), including MMA patients who underwent kidney (KT), liver (LT), or liver-kidney transplantation (LKT) between 2007 and 2022. Our aim was to evaluate acute neurological complications occurring after...

Diffusion tensor imaging (DTI) offers a non-invasive window into kidney microstructure by measuring directional water diffusion. In pediatric populations, where early detection of kidney dysfunction is crucial, DTI shows promise for evaluating structural integrity, diagnosing conditions, and monitoring chronic diseases such as autosomal recessive polycystic kidney disease (ARPKD). This review briefly presents the principles of renal DTI, key acquisition techniques, and important nuances in...

Acute kidney injury (AKI) superimposed on diabetic nephropathy (DN) accelerates fibrosis progression to end-stage renal disease, but the underlying mechanisms remain poorly understood. Since gut microbiota and their metabolites are pivotal contributors to diabetic pathogenesis and fibrotic development, we examined the role of gut microbiota-derived metabolites in the regulation of fibrosis following AKI-on-DN. Using a murine model of folic acid-induced AKI in diabetic nephropathy, we revealed...

CONCLUSIONS: AKI is a common complication of HCT in children. HLA mismatch and post-transplantation complications are independent risk factors. Severe AKI is closely associated with poor prognosis. Early monitoring and management of AKI are crucial for improving outcomes.

CONCLUSIONS: Management of children with failing kidney allografts is complex and practice varies across Europe. Our study paves the way for prospective studies looking at the effects of optimal management of blood pressure and CKD-MBD on allograft survival and the effects of immunosuppression changes on prospects for re-transplantation.

CONCLUSION: Compared to the 2014 criteria, the 2022 guidelines identified a higher proportion of pediatric kidney transplant recipients with HTN and more effectively identified abnormalities in recipients with elevated AASI. Our findings indicate that 2022 guidelines are better aligned with markers of arterial stiffness and cardiovascular risk.

CONCLUSIONS: This trial will provide the first high-quality evidence on the role of IVIg in BKPyV management and inform clinical decision-making in posttransplant care.

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

CONCLUSIONS: This technical report suggests that native ureteral ligation at pediatric kidney transplantation is feasible in selected patients but represents an empirical, non-standard-of-care approach. Prospective comparative studies are needed to refine patient selection and assess long-term outcomes.

No abstract

CONCLUSIONS: Elevated dd-cfDNA levels were associated with adverse alloimmune and functional outcomes, including rejection, DSA positivity, and reduced graft survival (p=0.0071). A logistic regression model identified eGFR decline in the >1.0% group to predict long-term graft failure and patient survival (p=0.04). These findings support the clinical value of dd-cfDNA as a biomarker of alloimmune risk in kidney transplant recipients.

CONCLUSION: These results highlight significant kidney involvement, particularly hypercalciuria and nephrocalcinosis, in patients with SSS, followed by consequent stones and progressive kidney dysfunction, indicating the need for regular kidney surveillance to ensure timely detection and management of evolving kidney disease.

Tuberous sclerosis complex (TSC) is a multisystem condition associated with disease-causing variants of either TSC1 or TSC2 genes. Significant kidney involvement in TSC is most often due to development of angiomyolipomas (AMLs) and occurs more frequently in people with TSC2 variants. Kidney cysts are also commonly seen; however, these are usually small and not recognised as problematic. A subset of patients has a severe polycystic kidney disease due to a contiguous gene deletion involving PKD1...

CONCLUSIONS: Heterogeneity of practice patterns in the management of pediatric rFSGS and barriers to clinical trials requires collaborative efforts to study and reach consensus on prevention and management of rFSGS.

CONCLUSIONS: Neuroblastoma should be considered in the differential diagnosis of congenital "renal" masses. Imaging-driven provisional diagnoses may be misleading, and genomic risk profiling may help lower the threshold for systemic therapy in selected cases.

Artificial intelligence (AI) is rapidly transforming many areas of medicine. Pediatric nephrology may be a field of particular relevance due to its data-rich environments, rarity of diseases, long-term follow-up needs, and persistent evidence gaps. Traditional clinical research methods, including randomized controlled trials, are often difficult to conduct in pediatric nephrology because of small sample sizes, ethical constraints, heterogeneity of disease, and long latency to clinically...

CONCLUSIONS: Risk factors associated with kidney function decline included age, insulin dependent diabetes, and number of pulmonary exacerbations. These findings highlight key contributors to kidney function decline in a modern cohort of adults with CF.

No abstract

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

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

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

Pancreas transplantation is the most effective therapeutic option that can restore insulin independence in people with diabetes. Because of life-long immunosuppression and the initial surgical risk, pancreas transplantation is indicated in selected diabetic patients. Based on renal function, candidates for pancreas transplantation can be classified into three categories: uremic patients, post-uremic patients (following a successful kidney transplantation), and non-uremic patients. Uremic...

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

CONCLUSION: Pediatric CNTN1-AN exhibits a low incidence, requiring ongoing renal function monitoring in affected cases. In CNTN1-AN with MN, neurological symptoms respond well to low-dose rituximab, whereas renal manifestations often require intensified regimens. The mechanisms linking CNTN1-AN and MN remain elusive, highlighting the need for further studies to optimize rituximab therapeutic protocols.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

No abstract

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

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

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

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

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

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

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

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

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

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

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

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

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

No abstract

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

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

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

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

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

CONCLUSIONS: Our research demonstrated the cell type-specific molecular features in the circulation and kidney of the NEG pMN patient.

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.

Membranous nephropathy is an autoimmune disease affecting the glomeruli and is one of the most common causes of nephrotic syndrome. In the absence of any therapy, 35% of patients develop end-stage renal disease. The discovery of autoantibodies such as phospholipase A2 receptor 1, antithrombospondin and neural epidermal growth factor-like 1 protein has greatly helped us to understand the pathogenesis and enable the diagnosis of this disease and to guide its treatment. Depending on the...

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...

Glomerulonephritis (GN) is a predominant cause of kidney failure in Africa. The prevalence of primary GNs varies widely across Africa depending on the relative proportion of secondary GNs and genetic predispositions. We assessed the overall and sub-regional prevalence of primary GN and its histologic subtypes in Africa. We searched PubMed, EMBASE and African Journals Online for studies of biopsy-proven primary GNs across all age groups in Africa published between 2010 and 2022. Data for primary...

CONCLUSIONS: Hematuria is prevalent among participants with the three podocytopathies and is significantly and independently associated with worse kidney-related outcomes, including both progressive loss of kidney function and remission of proteinuria.

CONCLUSIONS: This study describes the distribution and changes in kidney biopsy diagnoses over 10 years in Japan and paves the way for future research on kidney diseases in adults and children.

The management of immunoglobulin A nephropathy, membranous nephropathy, lupus nephritis, anti-neutrophil cytoplasmic antibody-associated vasculitis, C3 glomerulonephritis, autoimmune podocytopathies and other immune-mediated glomerular disorders is focused on two major treatment goals, preventing overall mortality and the loss of kidney function. Since minimizing irreversible kidney damage best serves both goals, the management of immune-mediated kidney disorders must focus on the two central...

CONCLUSIONS: This study evaluates histomorphologic findings from kidney biopsies of pediatric recipients following allo-HSCT. Detailed evaluation of renal biopsy samples is helpful to elucidate the nature of renal insult, and may potentially identify treatable disease processes.

CONCLUSIONS: Computational image analysis enables quantification of the status of the kidney microvasculature and the discovery of a previously unrecognized PTC biomarker (aspect ratio) of clinical outcome.

CONCLUSION: Proteinuria and renal dysfunction were more common than expected and might indicate glomerulopathy and vascular lesions besides a tubulointerstitial injury in GS. Renal function may maintain stable with effective therapy in most cases.

No abstract

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

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

CONCLUSION: This automated whole-blood assay offers a rapid and reliable method for ISGs detection. IFI27 and OAS1 combined with C3, serve as sensitive biomarkers for monitoring of active SLE in routine care.

BACKGROUND: Systemic lupus erythematosus (SLE) is a chronic, multi-organ autoimmune disease characterised by a highly heterogeneous presentation. Specific genetic variations predispose patients to the disease, and rare monogenic forms caused by single-gene variations have been identified in a small percentage of patients, often with early disease onset. In this study, we used exome sequencing in a large cohort of patient with juvenile-onset SLE to gain insight into the genetic basis of juvenile...

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

This chapter offers an overview of CAR T-cell therapy and its emerging role in pediatric rheumatology, particularly the potential impact on severe refractory autoimmune conditions in children. It examines criteria for patient eligibility, safety concerns, and potential long-term effects for young rheumatology patients, while stressing the importance of personalized and prolonged follow-up. The possibility of achieving drug-free remission in pediatric cases appears to be a possible in refractory...

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

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

No abstract

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

Background/Objectives: Childhood-onset Sjögren disease (cSjD) is a rare autoimmune disorder with heterogeneous manifestations and ongoing diagnostic challenges, as there are no validated paediatric criteria. Our study aims to characterise the clinical, laboratory, and imaging features of children diagnosed with cSjD at a single Romanian paediatric rheumatology centre between 2015 and 2025 and contextualise these findings within the most recent literature. Methods: A retrospective review of 15...

Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by chronic inflammation in multiple organ systems. While a clinical association between elevated levels of the hormone/cytokine, prolactin (PRL), and exacerbation of SLE has been recognized for some time, little is known about the mechanisms through which PRL affects the course of this disease. Here, we show that immune cells in SLE have aberrant splicing of the prolactin receptor (PRLR) such that the ratio of the long to...

CONCLUSION: This study identifies the ANGPTL3-MSR1 axis as a critical pathway linking podocyte injury to macrophage-driven inflammation in LN, highlighting its therapeutic potential. Targeting this axis may disrupt maladaptive immune crosstalk, offering a novel strategy for LN management.

Epstein-Barr virus (EBV) is an important environmental risk factor in the development of several autoimmune conditions, with the mechanisms still to be fully elucidated. EBV primarily infects memory B cells, transitioning between lytic (active) and latent (dormant) phases of infection. Our group has previously proposed two molecular mechanisms linking EBV pathogenesis to autoimmunity: one indicates that EBV lytic switching contributes to systemic lupus erythematosus (SLE) pathogenesis, while...

Autoimmune rheumatic diseases (ARDs) are a diverse group of chronic disorders characterized by immune dysregulation and multi-organ inflammation. B cell receptor (BCR) signaling emerges as a shared, yet heterogeneously regulated, pathogenic axis across these diseases. This dysregulation drives B cell activation, autoantibody production, and ultimately tissue damage. Recent research highlights its involvement in both common and disease-specific mechanisms, which helps explain the wide variation...

CONCLUSION: Our results demonstrate that GBP2 expression is significantly upregulated in LN and promotes podocyte pyroptosis, likely contributing to renal injury. These findings suggest that GBP2 facilitates the progression of pediatric LN by activating the pyroptotic pathway and triggering the release of inflammatory cytokines.

Early-onset systemic lupus erythematosus (SLE) is frequently associated with a more severe phenotype and may be linked to monogenic causes in at least 10% of all juvenile SLE cases. Recent advances in immunogenetics have identified Mendelian variants linked to inborn errors of immunity, underlying SLE. Toll-like receptor 7 (TLR7), an endosomal RNA sensor, has emerged as a key contributor to lupus pathogenesis through aberrant activation. We report a novel P435S gain-of-function (GOF) variant in...

Background: Juvenile Systemic Lupus Erythematosus (jSLE) is a multisystem inflammatory disease associated with bone loss. However, some patients experience fractures prior to the impairment of bone mineral density (BMD), suggesting that other bone microarchitectural properties, including the Trabecular Bone Score (TBS), may contribute to an increased risk of fragility fractures. Purpose: To assess TBS values in patients diagnosed with jSLE; to compare them with data from an age- and sex-matched...

CONCLUSIONS: Hb, with meaningful thresholds for entry and improvement, will be adopted to classify haemolytic anaemia treatment response in a novel multi-domain outcome measure for SLE clinical trials.

CONCLUSION: Early, profound B cell depletion and IgG reduction are key predictors of infection in belimumab-treated cSLE. Our nomogram provides a practical tool for risk stratification and personalized monitoring.

CONCLUSION: Acute pancreatitis is a rare but severe complication of cSLE, with higher SLEDAI scores correlating with increased risk of pancreatitis. Early diagnosis and aggressive treatment with glucocorticoids combined with plasma exchange may be associated with improved short-term outcomes.

Systemic lupus erythematosus (SLE) is characterized by chronic immune activation, enhanced type I interferon signaling, and epigenetic dysregulation, conditions that may promote the reactivation of human endogenous retroviruses (HERVs). Whether HERV activation in SLE is global or selective, however, remains unclear. We analyzed the expression of HERV-H, HERV-K, and HERV-W, along with the HERV-derived envelope genes Syncytin-1 and Syncytin-2, in samples from lupus patients and healthy controls....

No abstract

CONCLUSION: Different autoimmune diseases complicated by MAS exhibit variations in laboratory indicators due to the distinct characteristics of the underlying diseases. Applying uniform diagnostic criteria for MAS may lead to misdiagnosis or missed diagnoses. This study provides new laboratory indicators and cutoff values for the diagnosis of cSLE complicated with MAS. Refining the 2016 sJIA-MAS classification criteria can improve both sensitivity and specificity, thereby contributing to...

No abstract

CONCLUSION: Rheumatologists believe cognitive screening and neuropsychological evaluation are important components of care for youth with cSLE but face multiple barriers related to limited training, time, and access to appropriate services. Future work addressing these barriers will support these providers and improve care for patients with cSLE.

Autoimmune diseases (ADs) are typically characterized by the immune system erroneously targeting self-organs and tissues, leading to chronic inflammation and organic damage. Current therapeutic strategies, which largely focus on suppressing late-stage inflammation, often fail to achieve satisfactory long-term outcomes. Exosomes, nanoscale extracellular vesicles secreted by diverse cell types, play a pivotal role in intercellular communication and immune regulation through the transfer of...

CONCLUSION: This umbrella review maps many indicators that have strong associations with preterm birth, these indicators should be considered as a core set of baseline characteristics background knowledge in future work on overall preterm birth.

Myocardial infarction in children is an infrequent phenomenon. Here, we are reporting a case of paediatric systemic lupus erythematosus with autoimmune haemolytic anaemia and anti-phospholipid syndrome who presented with complaints of chest pain. We have discussed the approach, evaluation and treatment using the example of this case.

Lupus nephritis (LN) is a serious complication that adversely affects the prognosis of children with systemic lupus erythematosus. However, short-term prognostic indicators for LN in this population remain unclear. This retrospective cohort study aimed to identify factors associated with treatment remission in Chinese children with LN, with a focus on inflammatory markers. We included 72 children aged 0 to 18 years diagnosed with LN at our center between January 2022 and December 2024. Partial...

BACKGROUND Neonatal lupus erythematosus (NLE) is a rare autoimmune disorder caused by the transplacental transfer of maternal autoantibodies, primarily anti-Ro/SSA and anti-La/SSB. Common clinical manifestations include cutaneous lesions and congenital heart block; however, systemic involvement such as anemia and transaminitis remains infrequently reported, particularly in Southeast Asian populations. Diagnosis is often missed, especially in infants born to asymptomatic mothers. CASE REPORT A...

Inborn errors of metabolism comprise a clinically diverse group of conditions that arise from the decreased activity of an enzyme or metabolite transporter and subsequent blockade in a metabolic pathway. These disorders are typically considered in the differential diagnosis of critically ill neonates or young children presenting with hypoglycaemia, metabolic acidosis or hyperammonaemia. However, beyond these classic presentations, a broader group of inborn errors of metabolism can manifest more...

CONCLUSIONS: We developed the first metaPRS of SLE by integrating genetic characteristics from multiple SLE-related risk factors, offering a new perspective for risk stratification and early diagnosis.

Thrombotic antiphospholipid syndrome (APS) in Childhood-onset systemic lupus erythematosus (cSLE) remains a therapeutic frontier. Here, we report the first case of telitacicept (a TACI-Fc fusion protein)- induced remission in cSLE related antiphospholipid syndrome (cSLE-APS), where targeted dual BAFF(B cell-activating factor)/APRIL(a proliferation-inducing ligand) inhibition resolved life-threatening infarctions and achieved sustained disease control. During treatment, corticosteroids were...

BackgroundMounting evidence indicates an increase in systemic lupus erythematosus (SLE) cases in the paediatric population, highlighting childhood-onset SLE (cSLE) as a distinct entity that warrants attention. Thus, we characterized a hospital-based cSLE patient cohort at our centre, including 10 years of observation and an assessment of case distribution across three subperiods.MethodsRetrospective data from 2009 to 2022 were collected from the hospital medical records of SLE patients <18 years...

CONCLUSION: We developed and reproduced a computable and portable phenotype algorithm to identify JIA patients in structured, retrospective data, validated this across multiple institutions, and demonstrated its consistent performance across sites. This approach supports broader adoption in collaborative research networks to enhance the accuracy of JIA studies.

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

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

Systemic lupus erythematosus (SLE) is often referred to as the great imitator, as it can mimic the presentation of several diseases, including infections. We present the case of an 18-year-old male adolescent with clinical and laboratory findings of SLE who was later found to have concurrent syphilis, gonorrhea, chlamydia, and human immunodeficiency virus (HIV) infections. Diagnosis of these concurrent infections was complicated by symptom overlap between these diseases, primarily between SLE,...

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

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

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

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

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

CONCLUSION: Ongoing therapeutic innovation, guided by mechanistic insights and strengthened by the development of standardized outcome measures, is transforming the CLE landscape and advancing the goal of precision-based, durable disease control.

CONCLUSIONS: Pediatric patients with MMD in the Korean population have a significantly higher hypertension burden and risk, emphasizing the need for prioritized hypertension management.

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

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

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

CONCLUSION: Vaccine-associated lupus is uncommon and manifestations are generally mild. HPV and HBV vaccines show strong associations with lupus AEs with distinct organ involvements.

No abstract

No abstract

Optimal nutrition is central to growth and development in all children, and is particularly relevant in those with chronic illnesses. This document provides 10 practical, evidence-informed tips on the assessment and management of the nutritional prescription in children with chronic kidney disease (CKD) and those receiving dialysis. The 10 tips synthesize work of the Paediatric Renal Nutrition Taskforce, an international team of pediatric renal dietitians and pediatric nephrologists who develop...

CONCLUSION: This study not only establishes a causal relationship between SS and NHL but, more importantly, identifies circulating TNFRSF9 as a key functional biomarker linking autoimmunity to lymphomagenesis. This finding suggests that circulating TNFRSF9 levels emerge as a candidate biomarker worthy of further investigation. Future prospective clinical studies are needed to correlate serum TNFRSF9 levels with lymphoma development. Key Points • First genetic evidence establishing a causal link...

CONCLUSIONS: Substantial variability exists in the readability and reliability of AI-generated health information on pediatric urolithiasis. Although ChatGPT and Google Gemini provided more reliable information, Google Gemini's responses were consistently more complex and less accessible. These findings emphasize the need for careful validation and language simplification of AI-generated content before its use in patient and caregiver education.

Delayed graft function (DGF) in pediatric kidney transplantation is a serious complication with negative impact on graft survival. Currently, there are no reliable methods available to assess the risk of DGF in children. We performed a retrospective analysis of data from the Cooperative European Paediatric Renal Transplant Initiative (CERTAIN) registry to develop a DGF risk assessment model for pediatric kidney transplantation, based on parameters available within the first 24 h post-transplant....

CONCLUSION: By identifying key genes and pathways that contribute to cellular longevity in human skin, this study provides molecular insights for developing anti-aging strategies with potential applications in dermatology.

CONCLUSIONS: Longer time spent with low eGFR is associated with greater odds of preemptive and living donor transplantation. Earlier transplant referral for all children, especially Black youth, may help improve access to preemptive and living donor transplantation.

No abstract

Hispanic and immigrant children experience persistent inequities in kidney health driven by social and structural barriers, including restrictive insurance policies, language access gaps, and immigration-related fear. These forces contribute to fragmented care and erode trust in healthcare systems. This commentary examines multilevel drivers of inequity and highlights the chilling effects of recent anti-immigration and data-sharing policies on healthcare engagement. We argue that pediatric...

BACKGROUND: Information on childhood cancer burden is crucial for effective cancer policy planning. Unfortunately, observed paediatric cancer data are not available in every country, and previous global burden estimates have not discretely reported several common cancers of childhood. We aimed to inform efforts to address childhood cancer burden globally by analysing results from the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2023, which now include nine additional cancer...

CONCLUSIONS: The eGFR equations covering children - particularly U25(Cr-CysC) and FAS(Cr)-Ht equations - provide more reliably estimates of GFR than adult equations in Korean adolescents and young adults with CKD. These findings support the use of age-spanning formulas during transitional care to improve clinical accuracy and continuity.

No abstract

CONCLUSIONS: In a meta-analysis of 18,193 participants across 9 countries, we observed no indication that SFA increased CKD risk, whereas higher 18:0 concentrations were associated with a lower risk of CKD. Future research is needed to assess mechanisms by which SFA 18:0 may exert kidney-protective effects, and how circulating SFA 18:0 concentrations may be altered.

No abstract

CONCLUSION: This nationwide analysis of registered Alport syndrome cases suggests potential underdiagnosis in Korea, with delays in appropriate recognition and treatment. Many patients receive unnecessary immunosuppression due to misdiagnosis, underscoring the need for improved diagnostic awareness and broader genetic testing.

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

CONCLUSIONS: Baseline pathogenic UBA1 VAF serves as a potent prognostic biomarker for poor outcomes in VS and highlights its potential role in risk stratification.

CONCLUSIONS: Adding belimumab to initial therapy facilitates quicker disease control and expedites glucocorticoid tapering in children, which can be a new treatment strategy for cSLE.

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

Idiopathic nephrotic syndrome is the most common glomerulopathy in children, and minimal change disease (MCD) is the most common histological pattern. First-line treatment involves glucocorticosteroids, but frequent relapses and steroid dependence may lead to steroid-related complications. Rituximab (RTX) is recommended in cases of lack of response or treatment side effects, reducing relapse rates and limiting the need for other medications. The mechanism of RTX involves B-cell depletion through...

CONCLUSION: This study supports the cross-cultural validity and reliability of the KITs scale in paediatric ITP. It reveals marked parent-child discrepancies (20.06-point gap) likely influenced by cultural and psychosocial factors. These findings highlight the need for culturally informed family-centred psychosocial interventions and provide a foundation for international HRQoL comparisons and culturally adaptive clinical care models in paediatric haematology.

No abstract

CONCLUSION: Serum Gal-3 levels are higher in patients with RPS and are thought to be useful in diagnosing RPS and in elucidating its pathophysiology.

CONCLUSION: The ACE gene DD genotype and D allele can be considered as risk factors for INS susceptibility and significant phenotype modifiers regarding the presentation, pathology, response to steroids, and renal survival in Egyptian children.

Recent studies have revealed multiple genetic variants affecting a highly conserved ∼50 bp region encompassing the putative NFAT, NKX2, and FOX binding sites in HK1 intron 2 in congenital hyperinsulinism (CHI) with aberrant HK1 expression in β cells. We identified a novel "likely pathogenic" variant (NC_000010.11:g.69348930T>C) within the FOX-binding site in a Japanese boy and his father with CHI. Furthermore, we performed luciferase assays using HEK293T cells transfected by luciferase reporter...

Endothelial cell (EC) injury is a critical factor in sepsis-induced organ failure. Continuous renal replacement therapy (CRRT) is used to improve hemodynamically unstable sepsis. We conducted a single-center, prospective, observational cohort study to assess whether CRRT attenuates sepsis-associated with EC injury. Based on whether CRRT was implemented within 24 h after admission, patients were divided into non-CRRT and CRRT groups. Demographic data, clinical features, and laboratory indexes...

CONCLUSION: Catheter-associated intracardiac thrombosis is clinically important complication in children with chronic diseases requiring central venous access. Our findings suggest that intracardiac thrombosis may develop silently in patients with long-term central venous catheters, supporting consideration of routine echocardiographic screening in high-risk subgroups. However, the optimal screening interval and target populations remain to be defined by prospective studies. While a size- and...

SLC20A1 encodes the ubiquitously expressed phosphate transporter PiT1, a protein with roles extending beyond phosphate homeostasis to include regulation of proliferation, differentiation, apoptosis, and embryonic development. While heterozygous SLC20A1 variants have been associated with urinary tract malformations, the impact of biallelic loss-of-function was unknown. We report the first human case of a biallelic homozygous predicted loss of function variant in SLC20A1 (c.674_675delAA;...

CONCLUSION: We successfully developed and validated an individualized prognostic nomogram. This tool integrates key clinical and pathological features to quantify the risk of renal function decline in children with IgAVN shortly after renal biopsy, providing a basis for personalized management decisions.

CONCLUSION: With our meta-analysis, we provide evidence for an association between maternal hypertension (particularly gestational hypertension and preeclampsia) and CLP in children. Given that residual confounding cannot be entirely excluded, caution is warranted in interpreting the conclusions of this study. More high-quality studies are needed to establish whether the association with maternal hypertension is causal.

There is no medical field where the impact of medical evolution is more palpable than in kidney transplantation. The pioneers of this procedure, 70 years ago, laid out the foundation for organ transplantation in general and kidney transplantation in particular. Despite the incredible advancements that have been made since, huge differences exist worldwide in terms of access, equity and quality of care. Nowhere are these disparities more prominent than in developing countries with limited...

No abstract

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

CONCLUSION: In Southwest China, high pre-delivery SUA levels are significantly associated with increased risks of premature delivery and low birth weight. Our data reveal a U-shaped association, suggesting that moderate SUA levels are linked to optimal outcomes, whereas extremely low concentrations showed a non-significant risk trend. While this retrospective study cannot establish causality, it underscores the value of SUA monitoring. Prospective studies are warranted to further clarify the...

Aldosterone synthase deficiency (ASD), which is caused by a genetic defect in CYP11B2, involves a deficiency in aldosterone alone. Newborn and early childhood ASD patients can present with salt-wasting symptoms. In severe cases, this can lead to shock and be life-threatening. ASD must also be differentiated from another disease, pseudohypoaldosteronism type 1 (PHA1), which involves resistance to aldosterone. PHA1 can be classified into PHA1a, PHA1b, and secondary PHA1. PHA1a is caused by a...

CONCLUSIONS: The findings support the potential clinical utility of the furosemide stress test in the early stages after pediatric cardiac surgery to predict acute kidney injury.

Background: Childhood hypertension is an important predictor of adult cardiovascular disease. Idiopathic erythrocytosis in adolescent males is characterized by elevated hemoglobin and hematocrit levels, which may increase blood viscosity and potentially influence blood pressure (BP) regulation. However, the relationships between erythrocytosis, renal tubular-glomerular function, and systemic hypertension in adolescents remain unclear. Methods: This prospective observational case-control study...

Background: Kawasaki disease (KD) is a systemic vasculitis of unknown origin, though recent evidence implicates viral pathogens in its pathogenesis. Given the central role of T cell receptors (TCRs) in antigen recognition and immune response, this study investigated the association between KD and viral infection through comparative analysis of TCR repertoires. Methods: TCR repertoires from KD patients, healthy children, and individuals with viral infections were comparatively analyzed. TCR...

To clarify the genetic classification, diagnostic strategies, and precision treatment pathways of steroid-resistant nephrotic syndrome (SRNS), this review systematically reviews the genetic stratification system of SRNS by integrating recent advances in genetic testing technologies and pathogenesis research. It contains the pathogenic mechanisms, diagnostic protocols, and therapeutic correlations of different genetic subtypes, while summarizing current progress and clinical challenges in gene...

Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive tubulopathy caused by mutations in the CLDN16 or CLDN19 genes, patients usually develop hypomagnesemia, hypercalciuria, nephrocalcinosis and renal failure early in life, and those with CLDN19 gene mutations have ocular findings in addition. Five children from four non-consanguineous Chinese Han families presenting with nephrocalcinosis and renal insufficiency were enrolled in our study....

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

CONCLUSIONS: Preclinical data suggest that polyphenols are potent multifunctional agents capable of breaking the feedback loops of cardiorenal injury. While bioavailability remains a significant translational challenge, novel nano-delivery systems and synthetic analogs offer promising strategies for clinical application. Integrating these bioactives into CRS management could provide a decisive adjunctive strategy to improve metabolic homeostasis and prevent end-stage organ failure.

No abstract

CONCLUSION: Most pediatric renal abscesses can be successfully managed conservatively. Vesicoureteral reflux is common, and acute kidney injury is markedly more frequent among children who require surgical treatment.

No abstract

Background: The presence of metabolic syndrome (MetS) in children predisposes them to steatotic liver disease, with or without liver enzyme alterations. Early diagnosis of the degree of liver damage can stop the progression to more severe dysfunction. Objectives: This study aimed to establish the link between liver enzyme levels and triglyceride and cholesterol values in pediatric patients with obesity, grouped according to MetS status and metabolic dysfunction-associated fatty liver disease...

No abstract

No abstract

Skeletal muscle plays a central role in systemic metabolism, physical function, and overall health. Aging and disease diminish the ability of myogenic and non-myogenic skeletal muscle cells to coordinate adaptation and repair, but the mechanisms underlying this decline are not fully understood. Growing evidence implicates cellular senescence, a stress response marked by irreversible cell-cycle arrest and pro-inflammatory signaling, as a key contributor to muscle pathology. In this review, we...

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

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

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

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

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

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

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

CONCLUSION: Vaccine-associated lupus is uncommon and manifestations are generally mild. HPV and HBV vaccines show strong associations with lupus AEs with distinct organ involvements.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

In the original publication [...].

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

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

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

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

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

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

CONCLUSIONS: The differential roles of IL-6, NLR, and WBC in predicting AKI onset highlight distinct physiopathological pathways influenced by COVID-19. In CKD+ patients, chronic inflammation and immune dysregulation are key drivers of AKI, with IL-6 and NLR serving as robust markers of this inflammatory state. In contrast, in CKD- patients, AKI may be more influenced by acute inflammatory responses and infectious factors, as reflected by WBC count.

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

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

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

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

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

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

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

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

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

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

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

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

No abstract

CONCLUSION: Our case suggests that rituximab, without cyclophosphamide, may represent a promising therapeutic approach in children with double-seropositive anti-GBM disease, even in severe presentations.

No abstract

Background: Antiphospholipid syndrome (APS) is diagnosed by characteristic clinical manifestations supported by positivity for lupus anticoagulant, anticardiolipin, and anti-β2-glycoprotein I antibodies. However, a proportion of patients, especially those with systemic lupus erythematosus, remain seronegative despite high clinical suspicion. Anti-phosphatidylserine/prothrombin antibodies (aPS/PT) have emerged as potential biomarkers in this setting. We conducted an expert perception-based Health...

No abstract

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

Primary hyperoxalurias (PHs) are a group of rare autosomal recessive disorders of glyoxylate metabolism leading to excessive oxalate production, recurrent nephrolithiasis, nephrocalcinosis, and progression to kidney failure with systemic oxalosis in the most severe forms. Until recently, treatment options were limited to conservative measures and double liver/kidney transplantation. The advent of small interfering RNA therapies has revolutionized the field by enabling targeted hepatic enzyme...

CONCLUSION: Although guidelines recommend vaccination alone, our findings indicate that combined protection offers substantially greater protection against IMD in patients receiving long-term C5i. Continued prospective monitoring will be essential to define the optimal preventive strategies in this high-risk population.

Refractory lupus nephritis (LN) poses a significant clinical challenge in the management of systemic lupus erythematosus (SLE) due to its resistance to conventional immunosuppressive therapies. This study evaluates the immunological, anti-inflammatory and anti-fibrotic effects of daratumumab, a CD38-targeting monoclonal antibody, in patients with refractory LN who failed standard treatments. Previous findings demonstrated daratumumab safety and efficacy, improving renal function and reducing...

Cystinosis is a rare autosomal recessive lysosomal storage disorder characterized by systemic cystine accumulation. Cysteamine is the only currently approved cystine-depleting therapy, available in immediate- and delayed-release (DR cysteamine) formulations. DR cysteamine contains methacrylic acid copolymer, an excipient associated with fibrosing colonopathy in patients with cystic fibrosis. Here, we report on a case of a 10-year-old girl with cystinosis who developed severe gastrointestinal...

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

Polycystic liver disease (PLD) is a rare genetic disorder characterised by progressive liver enlargement due to multiple cysts. The main symptoms are liver volume-related. Although randomised controlled trials have shown that somatostatin analogues (SSAs) reduce liver volume as well as symptoms, specific guidance on when and how to use SSAs in clinical practice is still lacking. A panel of 15 hepatologists and nephrologists developed practical guidance on SSA use, based on a systematic...

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

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

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

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

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

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

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

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

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

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

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

No abstract

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

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

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

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

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

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

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

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

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

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

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

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

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

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

No abstract

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

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

No abstract

Childhood-onset systemic lupus erythematosus (cSLE) is a severe lifelong and life-threatening autoimmune disease with multi-organ involvement. Compared to those with adult-onset disease, cSLE patients have more aggressive disease with a higher prevalence of early lupus nephritis (LN) causing worse kidney and patient outcomes. The transfer of adolescent patients to adult healthcare poses several major challenges, from a disease as well as a psychosocial perspective. Transitional care even in...

No abstract

CONCLUSIONS: The new SIR recommendations provide the rheumatology community with a practical guide based on updated scientific evidence for the management of RHRD.

CONCLUSIONS: ALG8 and ALG9 are defined as cystic kidney/liver genes but with limited penetrance for lower eGFR.

CONCLUSION: This study outlines a cohort of ADPKD patients with accelerated disease progression, reaching KF before age 40. Hypertension and urological events were highly prevalent at a young age, emphasizing the importance of early and regular blood pressure monitoring.

INTRODUCTION: Psoriatic arthritis (PsA) is a chronic inflammatory arthropathy associated with cutaneous psoriasis (PsO), first defined by Moll and Wright. Initially perceived as relatively benign, PsA is now recognized for its chronic, progressive, and destructive nature, significantly impacting patients' quality of life, similar to Rheumatoid Arthritis (RA). Globally, PsA represents about 20% of cases in early arthritis clinics, posing diagnostic and management challenges. Early diagnosis is...

CONCLUSIONS: We found no association between HCO3^(-) and growth nor evidence of improved growth after treatment of metabolic acidosis. Living donor KTx was positively associated with post-transplant growth, while there was an inverse association with allograft rejection.

CONCLUSION: We provide strong evidence for the pathogenicity of heterozygous variants affecting Arg394 and thus a novel inheritance modus for ATP6V1B1-associated dRTA. Clinically, this form differs from the recessive one by the lower prevalence of hearing loss. The prominent position of Arg394 in the nucleotide binding fold of the H+-ATPase structure is consistent with a dominant negative mechanism. Our findings inform the diagnosis and management of patients with dRTA and variants of Arg394.