Mutations in Na(K)Cl transporters in Gitelman's and Bartter's syndromes.
The successful merging of modern molecular genetics with basic renal physiology is exemplified by the recent description of the molecular basis of two classic diseases of clinical nephrology; Bartter's and Gitelman's syndromes of inherited hypokalemic alkalosis. Mutations in four different genes have been identified, each of which causes hypokalemic alkalosis, salt wasting and hypotension. These genetic studies have greatly advanced our understanding of renal physiology.
Howard Hughes Medical Institute, Department of Medicine, Boyer Center for Molecular Medicine, Yale University School of Medicine, New Haven, Connecticut 06510, USA. david.simon@yale.edu
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D001477:Bartter Syndrome / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D006801:Humans; D007668:Kidney; D009154:Mutation; D028021:Sodium-Potassium-Chloride Symporters; D013577:Syndrome
D002352:Carrier Proteins; D028021:Sodium-Potassium-Chloride Symporters