NPHS2 Mutations: A Closer Look to Latin American Countries

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 impairmen...

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Bibliographic Details
Published in:BioMed research international 2017-01, Vol.2017 (2017), p.1-6
Main Authors: Guerra-Júnior, Gil, Belangero, Vera Maria Santoro, Maciel-Guerra, Andréa Trevas, Lutaif, Anna Cristina G. B., Guaragna, Mara Sanches, de Mello, Maricilda Palandi
Format: Article
Language:English
Subjects:
Amino acids
Analysis
Care and treatment
Child development
Congenital diseases
Gene mutations
Genes
Genetic aspects
Genetic engineering
Geography
Glomerular filtration rate
Humans
Interdisciplinary aspects
Intracellular Signaling Peptides and Proteins - genetics
Kidney diseases
Latin America
Membrane Proteins - genetics
Mutation
Mutation - genetics
Neural networks
Pathogenesis
Pediatrics
Proteins
Review
Steroids
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Summary: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.
ISSN:2314-6133
2314-6141
DOI:10.1155/2017/7518789