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...

Podocytes are specialized epithelial cells covering the basement membrane of the glomerulus in the kidney. The molecular mechanisms underlying the role of podocytes in glomerular filtration are still largely unknown. We generated podocin-deficient (Nphs2-/-) mice to investigate the function of podocin, a protein expressed at the insertion of the slit diaphragm in podocytes and defective in a su...

To the Editor, Congenital nephrotic syndrome (CNS) is an autosomal recessive, the most frequent and clinically heterogeneous renal disease. The disease is defined by childhood onset of heavy proteinuria, hypoalbuminemia, hyperlipidemia, edema, and minimal glomerular changes. Mutations of NPHS2 gene, encoding glomerular protein podocin are a major cause of autosomal-recessive steroid resistant n...

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...

We report a consanguineous family from Saudi Arabia with three affected children presenting with infantile nephrotic syndrome. In order to provide a molecular diagnosis, a genome-wide SNP analysis of the affected patients was performed. We identified a region of homozygosity on chromosome 1, containing the NPHS2 gene. Direct sequencing, by exon PCR, of NPHS2 identified a homozygous nucleotide c...

Autosomal recessive steroid-resistant nephrotic syndrome (SRINS) belongs to the heterogeneous group of familial nephrotic syndrome and represents a frequent cause of end-stage renal disease in childhood. This kidney disorder is characterized by early onset of proteinuria, progression to end-stage renal disease, and histologic findings of focal segmental glomerulosclerosis, minimal change nephro...

BACKGROUND Podocytes play an important role in maintaining normal glomerular function. A podocyte-specific conditional knockout technology has been established by the use of transgenic mice expressing a podocyte-specific Cre recombinase to clarify the role of genes expressed in the podocytes. However, it may be difficult to examine the role of genes in certain pathologic conditions using conven...