Table of Contents Author Guidelines Submit a Manuscript
BioMed Research International
Volume 2017 (2017), Article ID 7518789, 6 pages
https://doi.org/10.1155/2017/7518789
Review Article

NPHS2 Mutations: A Closer Look to Latin American Countries

1Center for Molecular Biology and Genetic Engineering (CBMEG), State University of Campinas (UNICAMP), Campinas, SP, Brazil
2Integrated Center of Pediatric Nephrology (CIN), Department of Pediatrics, School of Medical Sciences (FCM), State University of Campinas (UNICAMP), Campinas, SP, Brazil
3Department of Medical Genetics, School of Medical Sciences (FCM), Interdisciplinary Group for the Study of Sex Determination and Differentiation (GIEDDS), School of Medical Sciences (FCM), State University of Campinas (UNICAMP), Campinas, SP, Brazil
4Interdisciplinary Group for the Study of Sex Determination and Differentiation (GIEDDS), Pediatrics Endocrinology, Department of Pediatrics, School of Medical Sciences (FCM), State University of Campinas, UNICAMP, Campinas, SP, Brazil

Correspondence should be addressed to Mara Sanches Guaragna; moc.liamg@angaraug.aram

Received 3 March 2017; Revised 2 June 2017; Accepted 8 June 2017; Published 12 July 2017

Academic Editor: Andreas Kronbichler

Copyright © 2017 Mara Sanches Guaragna et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Nephrotic syndrome is one of the most common kidney pathologies in childhood, being characterized by proteinuria, edema, and hypoalbuminemia. In clinical practice, it is divided into two categories based on the response to steroid therapy: steroid-sensitive and steroid resistant. Inherited impairments of proteins located in the glomerular filtration barrier have been identified as important causes of nephrotic syndrome, with one of these being podocin, coded by NPHS2 gene. NPHS2 mutations are the most frequent genetic cause of steroid resistant nephrotic syndrome. The aim of this review is to update the list of NPHS2 mutations reported between June 2013 and February 2017, with a closer look to mutations occurring in Latin American countries.