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[Bartter syndrome and it's neonatal type].

作者信息

Jankauskiene Augustina, Jakutovic Marija

机构信息

Vilnius University Children's Hospital, Vilnius, Lithuania.

出版信息

Medicina (Kaunas). 2003;39 Suppl 1:88-93.

Abstract

For the first time neonatal variant of Bartter syndrome to 14.5-year old girl is presented in Lithuania. It is a rare genetical disease with autosomal recessive inheritance. The patient was born prematurely, had polyhydramnion, polyuria and polydypsia, a craving for salt, specific outlook and was mentally retarded, had muscle weakness and nephrocalcinosis. Hypokalemia, hyperreninemia and metabolic alkalosis were found. Urine analysis revealed impaired renal concentration capacity, hypercalciuria and hypernatriuria. She had the symptom of systemic disease - osteopenia. Literature review on Bartter's syndrome is done.

摘要

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