Recessive NPHS2 (podocin) mutations account for up to approximately 30% of steroid-resistant idiopathic FSGS in children and are associated with a reduced risk for disease recurrence after renal transplantation. R229Q, a missense variant that is present in 3.6% of the white population, has been implicated as a common disease-causing mutation. Given these clinical implications, we examined the r...

INTRODUCTION Mutations in podocin (NPHS2) gene have the key role in the pathogenesis of steroid-resistant nephrotic syndrome (SRNS) in children, but data is scarce regarding their prevalence and natural course among different all ethnic groups. This study was aimed to demonstrate the spectrum of NPHS2 mutations in children with SRNS and to compare the clinical course of disease in patients with...

Introduction. Nephrin and podocin proteins, encoded by NPHS1 and NPHS2 genes, are essential for the integrity of the glomerular filter. The present study was aimed to investigate whether NPHS1 rs437168 and NPHS2 rs61747728 genetic variants are involved in the susceptibility to nephrotic syndrome (NS). Materials and Methods. This case-control study was performed on 108 children with NS and 97 he...

BACKGROUND Mutations in podocin (NPHS2) are the most common cause of childhood onset autosomal recessive steroid-resistant nephrotic syndrome (SRNS). The disease is characterized by early-onset proteinuria, resistance to immunosuppressive therapy and rapid progression to end-stage renal disease. Compound heterozygous changes involving the podocin variant R229Q combined with another pathogenic m...

Steroid-responsive idiopathic nephrotic syndrome (SSINS) is the most common form of nephrotic syndrome in childhood. This article reports a cohort of familial SSINS with disease onset in childhood. The clinical course in terms of age at onset, symptoms during the initial phase, renal morphology, and outcome was evaluated. Furthermore, linkage to NPHS2, the gene for autosomal-recessive steroid-r...

The aim of this study was to evaluate the role nephrotic syndrome 2 (NPHS2) gene polymorphism (R229Q) in chronic kidney disease which has unclear etiology. This conducted on 80 CKD patients compared with 40 age and sex matched normal volunteers acting as a control group. All them underwent renal function tests were assessed for presence NPHS2 polymorphism. We noticed that is common variant Egy...

Nephrotic syndrome (NS) is one of the most frequent syndromes characterized namely by heavy proteinuria. Majority of NS occurs as a sporadic form, the incidence of familial cases is from 3 to 5%. Seven genes have been recognized till present, which mutations are responsible for severe forms of NS: NPHS1, NPHS2, ACTN4, CD2AP and WT1, TRPC6, LAMB2. Proteins encoded by these genes (nephrin, podoci...

BACKGROUND The utility of genetic testing in sporadic focal segmental glomerulosclerosis (FSGS) is unclear. We sought to determine the frequency of podocyte-related gene mutations in a heterogeneous population of adults and children with biopsy-proven FSGS. METHODS The prevalence of pathogenic mutations in five genes (NPHS2, TRPC6, ACTN4, INF2 and PLCE1) and of APOL1 risk alleles (G1 and G2) ...

Congenital nephrotic syndrome (CNS) is defined as heavy proteinuria or nephrotic syndrome occurring before 3 months of age. It is characterized by early onset and progresses to end-stage renal disease. Recently, several genes associated with CNS have been identified, including NPHS1 and NPHS2. Mutations in the NPHS1 gene have been identified in patients with CNS in Finland with relatively high ...

Background: Nephrotic syndrome (NS) is an expression of many glomerular diseases and not a disease in itself. Based on response to steroids, NS is categorized into steroid-sensitive nephrotic syndrome (SSNS) or steroid-resistant nephrotic syndrome (SRNS). SRNS patients are at a high risk of developing end-stage renal disease. The aim of the study was to evaluate steroid response and the prevale...