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

Kidney Blood Press Res. 2022;47(9):556-564. doi: 10.1159/000526070. Epub 2022 Jul 20.

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 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.

Keywords: Angiotensin signaling; Bartter’s syndrome; COVID-19; Gitelman’s syndrome.

Publication types

  • Review

MeSH terms

  • Bartter Syndrome* / genetics
  • Bartter Syndrome* / metabolism
  • COVID-19*
  • Electrolytes
  • Gitelman Syndrome* / genetics
  • Gitelman Syndrome* / metabolism
  • Humans
  • Hypertension* / genetics
  • Pandemics

Substances

  • Electrolytes

Grants and funding

This study was supported in part by the University of Padova, Grant No. DOR 2084023/2020 to LAC.