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Lancet. 2002 Aug 31;360(9334):692-4.

Association between activating mutations of calcium-sensing receptor and Bartter's syndrome.

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  • 1Department of Internal Medicine, University of Tokyo School of Medicine, Tokyo, Japan.

Abstract

Bartter's syndrome is a heterogeneous disorder characterised by deficient renal reabsorption of sodium and chloride, and hypokalaemic metabolic alkalosis with hyper-reninaemia and hyperaldosteronaemia. Mutations in several ion transporters and channels have been associated with the pathogenesis of Bartter's syndrome. We describe two hypocalcaemic patients with deficient parathyroid hormone secretion who also showed characteristics of Bartter's syndrome. We found activating mutations of the gene for the calcium-sensing receptor (CASR) in both patients. Activation of this calcium-sensing receptor inhibits the activity of a renal outer-medullary potassium channel that is mutated in type 2 Bartter's syndrome. We therefore suggest that some activating mutations of CASR could provide new mechanisms for the development of Bartter's syndrome.

PMID:
12241879
[PubMed - indexed for MEDLINE]
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