title: Application of molecular biology at the approach of Bartter's syndrome: case report.
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.
authors.affiliation: Universidade Federal de Minas Gerais.
authors.forename: Geisilaine Soares Dos
authors.initials: GS
authors.lastname: Reis
authors.forename: Débora Marques de
authors.initials: DM
authors.lastname: Miranda
authors.forename: Paula Cristina de Barros
authors.initials: PC
authors.lastname: Pereira
authors.forename: Helena Cunha
authors.initials: HC
authors.lastname: Sarubi
authors.forename: Luciana Bastos
authors.initials: LB
authors.lastname: Rodrigues
authors.forename: Luiz Armando Cunha de
authors.initials: LA
authors.lastname: Marco
authors.forename: Ana Cristina Simões E
authors.initials: AC
authors.lastname: Silva
mesh_terms: D001477:Bartter Syndrome / Q000175:diagnosis* / Q000235:genetics*; D002675:Child, Preschool; D003663:Decision Trees; D005260:Female; D006801:Humans; D007223:Infant; D025202:Molecular Diagnostic Techniques