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      Regulation of the Renal Na/K/2Cl Cotransporter Gene

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          The recently cloned bumetanide-sensitive Na/K/2Cl cotransporters (ENCC2-3) and thiazide-sensitive Na/Cl cotransporter (ENCC1) have important roles in sodium chloride absorption and secretion, cell volume regulation, ammonium accumulation in medullary interstitium, and ammonium excretion. Genetic mutations of bumetanide-sensitive Na/K/2Cl cotransporters and thiazide-sensitive Na/Cl cotransporter cause the hereditary hypokalemic alkalosis of some Bartter’s syndrome and Gitelman’s syndrome, respectively. The transporters are sensitive to diuretics and several hormones. Dehydration and acidosis influence the gene expression of ENCC3 but not of ENCC1-2. In contrast, sodium loading increases ENCC2 protein expression in the outer medulla.

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          Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2.

          Inherited hypokalaemic alkalosis with low blood pressure can be divided into two groups-Gitelman's syndrome, featuring hypocalciuria, hypomagnesaemia and milder clinical manifestations, and Bartter's syndrome, featuring hypercalciuria and early presentation with severe volume depletion. Mutations in the renal Na-Cl cotransporter have been shown to cause Gitelman's syndrome. We demonstrate linkage of Bartter's syndrome to the renal Na-K-2Cl cotransporter gene NKCC2, and identify frameshift or non-conservative missense mutations for this gene that co-segregate with the disease. These findings demonstrate the molecular basis of Bartter's syndrome, provide the basis for molecular classification of patients with inherited hypokalaemic alkalosis, and suggest potential phenotypes in heterozygous carriers of NKCC2 mutations.

            Author and article information

            Nephron Exp Nephrol
            Cardiorenal Medicine
            S. Karger AG
            August 1998
            15 July 1998
            : 6
            : 4
            : 272-276
            Third Department of Internal Medicine, Kumamoto University School of Medicine, Kumamoto, Japan
            20532 Exp Nephrol 1998;6:272–276
            © 1998 S. Karger AG, Basel

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