Antenatal Bartter’s syndrome

• Autor(a) principal: Coutinho,Rita
• Data de Publicação: 2015
• Outros Autores: Pereira,Ester, Martins,Luisa, Henriques,Raquel, Afonso,Eulalia
• Tipo de documento: Relatório
• Idioma: eng
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692015000300009
• topic: Antenatal Bartter’s syndrome; electrolyte imbalance; polyhydramnios; polyuria; prematurity

Bartter’s syndrome is a rare renal tubular disorder with an autosomal recessive pattern of inheritanceand an estimated prevalence of 1 per million people. There are two distinct clinical presentations: antenatal Bartter’s syndrome and classical Bartter’s syndrome. Antenatal Bartter’s syndrome is considered the more severe form having its inception in utero. The typical features include early onset of foetal polyuria causing maternal polyhydramnios and preterm delivery, intrauterine growth restriction, postnatal polyuria and dehydration, nephrocalcinosis and osteopenia. We herein report a case of a newborn with antenatal Bartter’s syndrome, early suspected due to the familial and antenatal history. A 31 weeks gestation baby was born from consanguineous parents. Pregnancy was complicated with polyhydramnios at 24 weeks of gestation. The newborn developed polyuria, dehydration, electrolyte imbalances and metabolic alkalosis. Additionally, secondary hyperaldosteronism and hyperreninaemia with normal blood pressure were found. His older brother, also born preterm, had nephrocalcinosis and hypercalciuria attributed to prematurity and its complications. A diagnosis of Bartter’s syndrome type 2 was made by molecular study, which helped to clarify the clinical picture of his older brother. Antenatal Bartter’s syndrome manifestations can be neglected and undercovered by the diagnosis of prematurity. Hence, obstetricians and paediatricians should be aware of this rare disorder. A complete and careful clinical history is of the utmost importance to reach a definitive diagnosis