Bartter's and Gitelman's syndromes: from gene to clinic.
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.
Naesens
Maarten
M
Department of Nephrology, Katholieke Universiteit Leuven, Belgium.
Steels
Paul
P
Verberckmoes
René
R
Vanrenterghem
Yves
Y
Kuypers
Dirk
D
D000293:Adolescent; D000328:Adult; D000471:Alkalosis / Q000175:diagnosis; D001477:Bartter Syndrome / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics*; D002648:Child; D006319:Hearing Loss, Sensorineural / Q000235:genetics; D006801:Humans; D007008:Hypokalemia / Q000175:diagnosis; D007231:Infant, Newborn; D017136:Ion Transport; D008138:Loop of Henle / Q000378:metabolism; D026901:Membrane Transport Proteins / Q000235:genetics; D009154:Mutation; D013577:Syndrome
D026901:Membrane Transport Proteins