Referenced in: none

Automatically associated channels: ClC4 , Kir1.1

Title: Bartter's and Gitelman's syndromes: from gene to clinic.

Authors: Maarten Naesens, Paul Steels, René Verberckmoes, Yves Vanrenterghem, Dirk Kuypers

Journal, date & volume: Nephron Physiol, 2004 , 96, p65-78

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/15056980

Abstract
Bartter's and Gitelman's syndromes are characterized by hypokalemia, normal to low blood pressure and hypochloremic metabolic alkalosis. Recently, investigators have been able to demonstrate mutations of six genes encoding several renal tubular transporters and ion channels that can be held responsible for Bartter's and Gitelman's syndromes. Neonatal Bartter's syndrome is caused by mutations of NKCC2 or ROMK, classic Bartter's syndrome by mutations of ClC-Kb, Bartter's syndrome associated with sensorineural deafness is due to mutations of BSND, Gitelman's syndrome to mutations of NCCT and Bartter's syndrome associated with autosomal dominant hypocalcemia is linked to mutations of CASR. We review the pathophysiology of these syndromes in relation to their clinical presentation.