Bartterův a Gitelmanův syndrom
| Title in English | Bartter and Gitelman syndromes |
|---|---|
| Authors | |
| Year of publication | 2024 |
| Type | Article in Periodical |
| Magazine / Source | Vox pediatriae |
| MU Faculty or unit | |
| Citation | |
| web | https://www.detskylekar.cz/vox-pediatriae-9-2024 |
| Keywords | Bartter syndrome; Gitelman syndrome; tubulopathy; management |
| Description | Bartter's and Gitelman's syndromes are tubulopathies associated with salt loss. These rare diseases may be associated with the development of severe electrolyte abnormalities. Advances in molecular genetics have allowed the identification of genes and pathophysiologic mechanisms associated with the development of these diseases This review article discusses the etiology and diagnosis of these diseases and provides current treatment recommendations. |