Pediatr. praxi. 2015;16(3):179-182

Bartter syndrome - clinical genetic analysis

prof.MUDr.Zdeněk Doležel, CSc.¹, prof.Hae II Cheong, M.D.^2,3, MUDr.Adéla Holeszová⁴, MUDr.Zdeňka Ráčilová⁵, MUDr.Denisa Pavlovská⁵, MUDr.Dana Dostálková¹, MUDr.Jiří Štarha, Ph.D.¹

¹ Pediatrická klinika LF MU a FN Brno

² Department of Pediatrics, Seoul National University Childrens ´s Hospital, Seoul, Korea

³ Research Coordination Center for Rare Diseases, Seoul National University Hospital, Seoul, Korea

⁴ Dětské oddělení, Nemocnice s poliklinikou Havířov, p. o.

⁵ Klinika dětské radiologie LF MU a FN Brno

Bartter syndrome is a group of inherited, salt-losing tubulopathies presenting as hypokalemic 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.

Keywords: Bartter syndrome, genetic analysis, hypokalemia, growth failure

Published: June 30, 2015  Show citation