Mutations in Na(K)Cl transporters in Gitelman's and Bartter's syndromes

Curr Opin Cell Biol. 1998 Aug;10(4):450-4. doi: 10.1016/s0955-0674(98)80057-4.


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.

Publication types

  • Review

MeSH terms

  • Bartter Syndrome / genetics*
  • Carrier Proteins / genetics*
  • Humans
  • Kidney
  • Mutation*
  • Sodium-Potassium-Chloride Symporters
  • Syndrome


  • Carrier Proteins
  • Sodium-Potassium-Chloride Symporters