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Aplicação da biologia molecular na abordagem da síndrome de Bartter: relato de caso

2012; Sociedade Brasileira de Nefrologia; Volume: 34; Issue: 1 Linguagem: Inglês

10.1590/s0101-28002012000100014

2175-8239

Geisilaine Soares dos Reis, Débora Marques de Miranda, Paula Cristina Pereira, Helena Sarubi, Luciana Bastos Rodrigues, Luiz Armando Cunha de Marco, Ana Cristina Simões e Silva,

Renal and related cancers

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.