Blog
About

0
views
0
recommends
+1 Recommend
1 collections
    0
    shares
      • Record: found
      • Abstract: found
      • Article: found

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

      Read this article at

      ScienceOpenPublisher
      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          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.

          Related collections

          Most cited references 1

          • Record: found
          • Abstract: found
          • Article: not found

          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.
            Bookmark

            Author and article information

            Journal
            EXN
            Nephron Exp Nephrol
            10.1159/issn.1660-2129
            Cardiorenal Medicine
            S. Karger AG
            1660-2129
            1998
            August 1998
            15 July 1998
            : 6
            : 4
            : 272-276
            Affiliations
            Third Department of Internal Medicine, Kumamoto University School of Medicine, Kumamoto, Japan
            Article
            20532 Exp Nephrol 1998;6:272–276
            10.1159/000020532
            © 1998 S. Karger AG, Basel

            Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher. Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug. Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.

            Page count
            Pages: 5
            Product
            Self URI (application/pdf): https://www.karger.com/Article/Pdf/20532
            Categories
            Minireview

            Comments

            Comment on this article