The pathophysiological and molecular basis of Bartter's and Gitelman's syndromes. Issue 885 (1st July 1999)

• Record Type: Journal Article
• Authors: Bhandari, Sunil
• Is Part Of: Postgraduate medical journal. Volume 75:Issue 885(1999)
• Page Start: 391
• Page End: 396
• Publication Date: 1999-07-01
• Subjects: Bartter's syndrome -- Gitelman's syndrome -- hypokalaemic alkaloses; Medicine -- Periodicals; 610
• DOI: 10.1136/pgmj.75.885.391
• Languages: English
• ISSNs: 0032-5473

Abstract

Abstract : Molecular defects affecting the transport of sodium, potassium and chloride in the nephron through the ROMK K + channel, Na + /K + /2Cl - cotransporter, the Na + /Cl - cotransporter and chloride channel have been identified in patients with Bartter's and Gitelman's syndromes. Defects of the angiotensin II type I receptor and CFTR have also being described. These defects are simple (ie, most are single amino acid substitutions) but affect key elements in tubular transport. The simplicity of the genetic defects may explain why the inheritance of these conditions remains unclear in most kindreds (ie, not just recessive or dominant) and emphasises the crucial importance of the conformational structure of these channels. Application of this molecular information will allow the early genetic identification of patients with these syndromes and enable us to differentiate between the various disorders at a functional level. It may also identify a sub-group in which the heterozygous form may make patients potentially exquisitely sensitive to diuretics.