Gitelman’s and Bartter’s Syndromes: From Genetics to the Molecular Basis of Hypertension and More

Background: Gitelman’s and Bartter’s syndromes (GS/BS) are rare genetic tubulopathies characterized by electrolyte imbalance and activation of the renin-angiotensin-aldosterone system (RAAS). These syndromes have intriguing biochemical and hormonal abnormalities that lead them to be protected from h...

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Published inKidney & blood pressure research Vol. 47; no. 9; pp. 556 - 564
Main Authors Ravarotto, Verdiana, Bertoldi, Giovanni, Stefanelli, Lucia Federica, Nalesso, Federico, Calò, Lorenzo A.
Format Journal Article
LanguageEnglish
Published Basel, Switzerland S. Karger AG 01.10.2022
Karger Publishers
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Summary:Background: Gitelman’s and Bartter’s syndromes (GS/BS) are rare genetic tubulopathies characterized by electrolyte imbalance and activation of the renin-angiotensin-aldosterone system (RAAS). These syndromes have intriguing biochemical and hormonal abnormalities that lead them to be protected from hypertension and cardiovascular and renal remodeling. Summary: In this review, we explore the biochemical/molecular mechanisms induced by the activation of the RAAS and its counterregulatory arm which is particularly activated in GS/BS patients, in the context of blood pressure regulation. In addition, we report our findings in the context of the COVID-19 pandemic where we observed GS/BS subjects being protected from infection. Key Messages: The intracellular pathways induced by Ang II, starting from induction of oxidative stress and vasoconstriction, are crucial for the progression toward cardiovascular-renal remodeling and might be useful targets in order to reduce/halt the progression of Ang II/oxidative stress-induced cardiovascular-renal morbidity in several diseases.
Bibliography:ObjectType-Article-2
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ISSN:1420-4096
1423-0143
DOI:10.1159/000526070