NPHS2 Mutations: A Closer Look to Latin American Countries

الملخص EN

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.