Simon DB, Karet FE, Rudin A, Trachtman H, Fischbach M, Calo L, Hulton S, Sechi G, Unwin R, Lifton RP
The molecular basis of inherited hypokalemic alkalosis: Bartter's and Gitelman's syndromes
Am Soc Nephrol
J Am Soc Nephrol (abstract) (Sep) 7:1623 1996

Autosomal recessive hypokalemic metabolic alkalosis includes two distinct phenotypes: Bartter's syndrome features more severe volume depletion, neonatal presentation, and hypercalciuria, associated with known mutations in the Na-K-2Cl transporter; in contrast, Gitelman's syndrome features later presentation of lesser severity, hypo-or normocalciuria, and musculoskeletal signs, associated with mutations in the thiazide-sensitve Na-Cl cotransporter. Authors collected 58 families with familial hypokalemic alkalosis and screened index cases for mutations in these two genes.

Six families had mutations in the Na-K-2Cl transporter and clinical courses consistent with Bartter's syndrome while the remaining 52 families had (89 independent) mutations in the thiazide-sensitive Na-Cl transporter and clinical courses consistent with Gitelman's syndrome.

Comment: These findings confirm the concordance of mutation genotype with clinical and physiological phenotype in these disorders. In addition, they define critical residues in these transporters and specific mutations associated with human disease. (Jason G. Umans, M.D., University of Chicago)

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Am Soc Nephrol
Acidosis/alkalosis : Hypokalemia

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