Bartter and Gitelman syndromes.

Jakub Zieg, Zdeněk Doležel

Journal: Casopis lekaru ceskych 2022;161(3-4):131-134

PMID: 36100451

Abstract

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.

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