Publication details

Bartterův syndrom

Title in English Bartter syndrome
Authors

PAPEŽ Jan

Year of publication 2023
Type Conference abstract
MU Faculty or unit

Faculty of Medicine

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.

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