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

ABSTRACT:

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 b

SUBMITTER: Ravarotto V 

PROVIDER: S-EPMC9677844 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature