Advanced search
Start date
Betweenand


NPHS2 Mutations: A Closer Look to Latin American Countries

Full text
Author(s):
Guaragna, Mara Sanches ; Lutaif, Anna Cristina G. B. ; Maciel-Guerra, Andrea T. ; Belangero, Vera M. S. ; Guerra-Junior, Gil ; De Mello, Maricilda P.
Total Authors: 6
Document type: Journal article
Source: BIOMED RESEARCH INTERNATIONAL; v. 2017, p. 6-pg., 2017-01-01.
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. (AU)

FAPESP's process: 12/51109-0 - Study of WT1, NPHS1 and NPHS2 in children with nephrotic syndrome
Grantee:Maricilda Palandi de Mello
Support Opportunities: Regular Research Grants
FAPESP's process: 13/24088-4 - EEstablishment of Exome Sequencing as a Resarch Tool for Screening Genes Related to Nephrotic Syndrome in Brazilian Children
Grantee:Mara Sanches Guaragna
Support Opportunities: Scholarships in Brazil - Post-Doctoral