Bartter and Gitelman syndromes

Cas Lek Cesk. 2022 Summer;161(3-4):131-134.


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: Bartter syndrome; Gitelman syndrome; management; tubulopathy; type 2 diabetes.

Publication types

  • Review

MeSH terms

  • Bartter Syndrome* / diagnosis
  • Bartter Syndrome* / genetics
  • Bartter Syndrome* / therapy
  • Gitelman Syndrome* / diagnosis
  • Gitelman Syndrome* / genetics
  • Gitelman Syndrome* / therapy
  • Humans