A steroid-resistant nephrotic syndrome in an infant resulting from a consanguineous marriage with COQ2 and ARSB gene mutations: a case report

Children with Steroid-resistant Nephrotic Syndrome: a Single-Center Study

Background and Aim: Steroid-resistant nephrotic syndrome (SRNS) accounts for 10%-20% of all cases of idiopathic nephrotic syndrome. These patients are at risk of developing end-stage renal disease. The aim of this study was to determine the demographic characteristics, renal biopsy findings, response to immunosuppressive treatment, and prognosis in pediatric patients with SRNS.Materials and Met...

Gene mutations and steroid-resistant nephrotic syndrome.

Steroid-resistant nephrotic syndrome with mutations in NPHS2 (podocin): report from a three-generation family

Genetic causes of steroid-resistant nephrotic syndrome are being increasingly recognized. Mutations in NPHS2, which encodes the glomerular protein podocin, account for up to 17% of sporadic and 40% of familial cases, where they display an autosomal-recessive pattern of inheritance. This report describes a non-consanguineous family with three generations of individuals who are either compound he...

children with steroid-resistant nephrotic syndrome: a single-center study

background and aim: steroid-resistant nephrotic syndrome (srns) accounts for 10%-20% of all cases of idiopathic nephrotic syndrome. these patients are at risk of developing end-stage renal disease. the aim of this study was to determine the demographic characteristics, renal biopsy findings, response to immunosuppressive treatment, and prognosis in pediatric patients with srns.materials and met...

infant boy with microcephaly gastroesophageal reflux and nephrotic syndrome (galloway-mowat syndrome): a case report

in this case report, we present the first diagnosed case of galloway- mowat syndrome in iran. a 7 month old infant boy with microcephaly that had prominently stunted head growth after birth, gastroesophageal reflux, multiple craniofascial characters, hypothyroidism and nephrotic syndrome diagnosed at 5 months of age associated with rapid decline in renal function and heavy proteinuria in 2 mont...