{"title":"Bartter and Gitelman syndromes.","authors":"Jakub Zieg, Zdeněk Doležel","doi":"","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":9645,"journal":{"name":"Casopis lekaru ceskych","volume":"161 3-4","pages":"131-134"},"PeriodicalIF":0.0000,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Casopis lekaru ceskych","FirstCategoryId":"1085","ListUrlMain":"","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0
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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