Publication details

Bartterův syndrom - klinicko-genetická analýza

Title in English Bartter syndrome - clinical genetic analysis
Authors

DOLEŽEL Zdeněk CHEONG Hae Il HOLESZOVÁ Adéla RÁČILOVÁ Zdeňka PAVLOVSKÁ Denisa DOSTÁLKOVÁ Dana ŠTARHA Jiří

Year of publication 2015
Type Article in Periodical
Magazine / Source Pediatrie pro praxi
MU Faculty or unit

Faculty of Medicine

Citation
Field Paediatry
Keywords Bartter syndrome; genetic analysis; hypokalemia; growth failure
Description Bartter syndrome is a group of inherited, salt-losing tubulopathies presenting as hypokalemie metabolic alkalosis with normotensive hyperreninemia and hyperaldosteronism. Two segments along the distal nephron are primarily involved in the pathogenesis of the syndrome: the thick ascending limb of Henle's loop, and the distal convoluted tubule. Frequently, pediatricians are the first professionals to attend to these patients and it is therefore important to be aware of this condition, since prognosis is better with earlier diagnosis and treatment. The authors describe the results of a genetic analysis and follow-up of patients with Bartter syndrome.

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