Funcional analysis of variants in NPHS2 promoter identified in brazilian patients with nephrotic syndrome

Abstract

Nephrotic syndrome is defined by heavy proteinuria, hypoalbuminemia, edema and hyperlipidemia. Podocin (NPHS2) is an integral membrane protein of podocytes in the glomerular filtration barrier. The aim of this study was to verify if different variants, previously identified in the promoter region of NPHS2 gene in non-related SRNS patients, affect podocin expression.