Abstract

This paper aims to show the utility of molecular biology for diagnose Bartter syndrome (BS) by the case report of two sisters and to propose a diagram for the molecular approach of this syndrome. The two reported cases presented prematurity, pregnancy complicated with polyhydramnio and low birth weight. During the first year of life, children exhibited polyuria, polydipsia and failure to thrive, leading to the investigation of renal tubular diseases and innate errors of metabolism. The laboratorial exams suggested BS, but the definitive diagnostic was only obtained by the detection of homozygous mutation on the exon 5 of the gene KCNJ1, resulting in a substitution of the aminoacid alanin for valin on codon 214 (A214V) in both DNA stripes in the two sisters and a heterozygous mutation in their parents. The definitive diagnostic of BS is frequently very difficult to be obtained. Consequently, considering the reported cases, we showed the utility of molecular techniques for the definitive diagnostic of BS and we proposed a diagram for the rational use of these techniques.

Links

Publisher Full Text

Authors

Reis GS, Miranda DM, Pereira PC, Sarubi HC, Rodrigues LB, Marco LA, Silva AC

Institution

Universidade Federal de Minas Gerais.

Source

Jornal brasileiro de nefrologia : ʹorgão oficial de Sociedades Brasileira e Latino-Americana de Nefrologia 34:1 2012 Mar pg 82-6

MeSH

Bartter Syndrome
Child, Preschool
Decision Trees
Female
Humans
Infant
Molecular Diagnostic Techniques

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng por

PubMed ID

22441188