NPHS2Mutations: A Closer Look to Latin American Countries-Reference-Cited by-同舟云学术

NPHS2Mutations: A Closer Look to Latin American Countries

Published:2017 Issue: Volume:2017 Page:1-6
ISSN:2314-6133
Container-title:BioMed Research International
language:en
Short-container-title:BioMed Research International

Author:

Guaragna Mara Sanches¹^ORCID,Lutaif Anna Cristina G. B.²,Maciel-Guerra Andréa T.³,Belangero Vera M. S.²,Guerra-Júnior Gil⁴^ORCID,De Mello Maricilda P.¹^ORCID

Affiliation:

1. Center for Molecular Biology and Genetic Engineering (CBMEG), State University of Campinas (UNICAMP), Campinas, SP, Brazil

2. Integrated Center of Pediatric Nephrology (CIN), Department of Pediatrics, School of Medical Sciences (FCM), State University of Campinas (UNICAMP), Campinas, SP, Brazil

3. Department 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

4. Interdisciplinary 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

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 byNPHS2gene.NPHS2mutations are the most frequent genetic cause of steroid resistant nephrotic syndrome. The aim of this review is to update the list ofNPHS2mutations reported between June 2013 and February 2017, with a closer look to mutations occurring in Latin American countries.

Funder

Fundação de Amparo à Pesquisa do Estado de São Paulo

Publisher

Hindawi Limited

Subject

General Immunology and Microbiology,General Biochemistry, Genetics and Molecular Biology,General Medicine

Link

http://downloads.hindawi.com/journals/bmri/2017/7518789.pdf

Reference52 articles.

1. KANK deficiency leads to podocyte dysfunction and nephrotic syndrome

2. Defects of CRB2 Cause Steroid-Resistant Nephrotic Syndrome

3. Rapid Detection of Monogenic Causes of Childhood-Onset Steroid-Resistant Nephrotic Syndrome

4. Mutations in EMP2 Cause Childhood-Onset Nephrotic Syndrome

5. A Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic Syndrome

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Prevalence of NPHS2 gene R229Q polymorphism in Bangladeshi children with nephrotic syndrome;Heliyon;2020-10

2. Prevalence of the NPHS2 variants p.R229Q, p.A242V, and p.R138Q in patients with focal segmental glomerulosclerosis;Clinical Nephrology;2020-10-01

3. The importance of genetic study in steroid-resistant nephrotic syndrome;Journal of Renal Injury Prevention;2019-09-13