Pediatric Nephrology -

X-linked hypophosphatemia (XLH) is the most prevalent form of hereditary rickets due to pathogenic variants in the PHEX gene. Since 2018, a treatment with burosumab, which inhibits the activity of…

Background Peritoneal dialysis (PD) is the preferred home dialysis treatment for children awaiting kidney transplant worldwide. There is significant variance in clinical outcomes across centers,…

Background Effective healthcare transitions and transfers of care are crucial for improving long-term health outcomes among adolescents and young adults (AYA) with chronic kidney disease (CKD).…

Background In pediatric nephrotic syndrome (NS), conventionally, spot urinary protein-creatinine ratio (PCR) is used for diagnosis and to define relapse and remission. This study evaluates whether…

Cystic nephroma (CN) in pediatric patients is a rare, benign, multi-lobular cystic mass often indicative of DICER1 tumor predisposition syndrome. This condition is caused by a germline mutation of…

Pediatric Nephrology -

Hematuria is a hallmark clinical manifestation of IgA nephropathy (IgAN) and largely reflects underlying glomerular inflammation. Despite this, current guidelines prioritize proteinuria and estimated…

A fundamental challenge in treating chronic kidney disease (CKD) is the lack of therapies to reverse established fibrosis. While systemic hypoxia sensors like erythrocyte sphingosine kinase 1…

Non-GFR determinants of filtration markers reduce the accuracy of estimated GFR (eGFR) and genetic factors may explain part of this reduced performance. Here, we identify genetic variants associated…

Cystinuria is a rare inherited disease characterized by increased urinary cystine levels resulting in the formation of cystine stones in the urinary tract. Mutations in the genes encoding the cystine…

Pediatric Nephrology -

Pediatric Nephrology -

Abstract Human leukocyte antigen (HLA) donor-specific antibodies (DSA) are among the most important determinants of late allograft loss after kidney transplantation. However, no uniform monitoring…

Introduction Distal renal tubular acidosis (dRTA) is a heterogeneous group of disorders of impaired distal acid secretion, leading to normal anion gap metabolic acidosis, growth failure and…

Monoclonal gammopathy, paraprotein secreted by a clonal B-lymphoproliferative or plasma cell disorder, is quite rare in children and adolescents and may be transient. Kidney injury related to…

Background Children with type 1 diabetes mellitus (T1DM) are at increased risk of early cardiovascular alterations, including hypertension and arterial stiffness. This study aimed to evaluate…