Bartter and Gitelman syndromes
Authors:
Jakub Zieg 1; Zdeněk Doležel 2
Authors‘ workplace:
Pediatrická klinika 2. LF UK a FN Motol, Praha
1; Pediatrická klinika LF MU a FN Brno
2
Published in:
Čas. Lék. čes. 2022; 161: 131-134
Category:
Review Article
Overview
Bartter and Gitelman syndromes belong to salt-losing tubulopathies. These rare diseases may be associated with severe electrolyte disorders. Early identification of tubulopathies is essential for appropriate management. Progress in molecular genetics enabled the identification of genes and pathophysiologic mechanisms associated with these diseases. Here, we review etiology and diagnostics of these disorders from the light of current knowledge. Additionally, we discuss contemporary therapeutic approaches.
Keywords:
management – tubulopathy – Bartter syndrome – Gitelman syndrome
Sources
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Journal of Czech Physicians
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