Bartterův syndrom
Title in English | Bartter syndrome |
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Authors | |
Year of publication | 2023 |
Type | Conference abstract |
MU Faculty or unit | |
Citation | |
Description | Bartter's syndrome (BS) is a designation for congenital tubulopathies that are accompanied by increased urinary salt loss. This is a heterogeneous group of diseases, the unifying characteristic of which is a disorder in the reabsorption of sodium, potassium and chlorine in the ascending limb of the loop of Henle. BS is divided into 5 types according to the disorder in the gene encoding a specific transport system. For BS types 1, 2 and 4, polyhydramnios and prematurity are typical, as well as failure to thrive, increased body temperature, vomiting attacks, generalized convulsions. The classic form of BS (type 3) has a variable manifestation, including severe episodes of dehydration and failure to thrive. BS type 5 presents with tetanic convulsions. Constant laboratory findings are hypokalemia, metabolic alkalosis, hyperreninemia, and hyperaldosteronism. It is a rare disease, the prognosis of which is determined by early diagnosis and treatment. |