Bartterův syndrom - klinicko-genetická analýza
| Title in English | Bartter syndrome - clinical genetic analysis |
|---|---|
| Authors | |
| Year of publication | 2015 |
| Type | Article in Periodical |
| Magazine / Source | Pediatrie pro praxi |
| MU Faculty or unit | |
| 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. |