PMID: 8945989Nov 1, 1996Paper

The molecular basis of inherited hypokalemic alkalosis: Bartter's and Gitelman's syndromes

The American Journal of Physiology
D B Simon, R P Lifton

Abstract

Hypokalemic alkalosis with low blood pressure can be caused by a number of medications or alternatively as an autosomal recessive genetic trait. Molecular genetic approaches to this problem have recently demonstrated that mutations in genes encoding the thiazide-sensitive Na-Cl cotransporter or the bumetanide-sensitive Na-K-2Cl cotransporter produce two distinctive clinical and physiological pictures featuring hypokalemic alkalosis. Mutations in the latter cause a phenotypic picture called Bartter's syndrome that includes marked hypercalciuria and neonatal presentation with marked intravascular volume depletion. Mutations in the former cotransporter result in Gitelman's syndrome, which includes hypocalciuria, hypomagnesemia, and typically older clinical presentation with predominant muscular signs and symptoms. These findings establish the molecular basis of these disorders and indicate that the diverse abnormalities seen in affected patients derive from primary defects in these mediators of cotransport function. Moreover, these findings have implications for normal mechanisms of renal electrolyte homeostasis and for potential phenotypic effects in the more common heterozygous carriers of these mutations.

Citations

Oct 22, 2016·American Journal of Physiology. Renal Physiology·Anita T LaytonAurélie Edwards
Jan 12, 2001·Physiological Reviews·L J DaiG A Quamme
Jul 27, 2007·American Journal of Physiology. Renal Physiology·Chien-Te LeeYeong-Hau H Lien
Nov 26, 1999·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·D Reimann, P Gross
Dec 15, 2020·ELife·Dana M TalsnessClement Y Chow

❮ Previous
Next ❯

Related Concepts

Related Feeds

BioHub - Researcher Network

The Chan-Zuckerberg Biohub aims to support the fundamental research and develop the technologies that will enable physicians to cure, prevent, or manage all diseases in our childrens' lifetimes. The CZ Biohub brings together researchers from UC Berkeley, Stanford, and UCSF. Find the latest research from the CZ Biohub researcher network here.