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      Bartter’s and Gitelman’s Syndromes: From Gene to Clinic

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          Abstract

          Bartter’s and Gitelman’s syndromes are characterized by hypokalemia, normal to low blood pressure and hypochloremic metabolic alkalosis. Recently, investigators have been able to demonstrate mutations of six genes encoding several renal tubular transporters and ion channels that can be held responsible for Bartter’s and Gitelman’s syndromes. Neonatal Bartter’s syndrome is caused by mutations of NKCC2 or ROMK, classic Bartter’s syndrome by mutations of ClC-Kb, Bartter’s syndrome associated with sensorineural deafness is due to mutations of BSND, Gitelman’s syndrome to mutations of NCCT and Bartter’s syndrome associated with autosomal dominant hypocalcemia is linked to mutations of CASR. We review the pathophysiology of these syndromes in relation to their clinical presentation.

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          Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter.

          D B Simon, C Nelson-Williams, M J Bia … (1996)
          Maintenance of fluid and electrolyte homeostasis is critical for normal neuromuscular function. Bartter's syndrome is an autosomal recessive disease characterized by diverse abnormalities in electrolyte homeostasis including hypokalaemic metabolic alkalosis; Gitelman's syndrome represents the predominant subset of Bartter's patients having hypomagnesemia and hypocalciuria. We now demonstrate complete linkage of Gitelman's syndrome to the locus encoding the renal thiazide-sensitive Na-Cl cotransporter, and identify a wide variety of non-conservative mutations, consistent with loss of function alleles, in affected subjects. These findings demonstrate the molecular basis of Gitelman's syndrome. We speculate that these mutant alleles lead to reduced sodium chloride reabsorption in the more common heterozygotes, potentially protecting against development of hypertension.
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            Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2.

            S. Sanjad, Fiona Karet Frankl, Leila Hamdan … (1996)
            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.
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              A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome.

              N Neyroud, F Tesson, I Denjoy … (1997)
              The Jervell and Lange-Nielsen (JLN) syndrome (MIM 220400) is an inherited autosomal recessive disease characterized by a congenital bilateral deafness associated with a QT prolongation on the electrocardiogram, syncopal attacks due to ventricular arrhythmias and a high risk of sudden death. JLN syndrome is a rare disease, which seems to affect less than one percent of all deaf children. Linkage to chromosome 11p15.5 markers was found by analysing four consanguinous families. Recombinants allowed us to map the JLN gene between D11S922 and D11S4146, to a 6-cM interval where KVLQT1, a potassium channel gene causing Romano-Ward (RW) syndrome, the dominant form of long QT syndrome, has been previously localized. An homozygous deletion-insertion event (1244, -7 +8) in the C-terminal domain of this gene was detected in three affected children of two families. We found that KVLQT1 is expressed in the stria vascularis of mouse inner ear by in situ hybridization. Taken together, our data indicate that KVLQT1 is responsible for both JLN and RW syndromes and has a key role not only in the ventricular repolarization but also in normal hearing, probably via the control of endolymph homeostasis.
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                Author and article information

                Journal
                Journal ID (publisher-id): NEP
                Journal ID (nlm-ta): Nephron Physiol
                Journal ID (doi): 10.1159/issn.1660-2137
                Title: Nephron Physiology
                Publisher: S. Karger AG
                ISSN (Electronic): 1660-2137
                Publication date Subscription-year: 2004
                Publication date (Print): March 2004
                Publication date (Electronic): 29 March 2004
                Volume: 96
                Issue: 3
                Pages: p65-p78
                Affiliations
                aDepartment of Nephrology, Katholieke Universiteit Leuven and bLaboratory of Physiology, Limburgs Universitair Centrum, Diepenbeek, Belgium
                Article
                Publisher ID: 76752 Other ID: Nephron Physiol 2004;96:p65–p78
                DOI: 10.1159/000076752
                PubMed ID: 15056980
                SO-VID: 5dff5b97-b61e-4f8d-82bc-b464ec7194b0
                Copyright © © 2004 S. Karger AG, Basel
                License:

                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.

                History
                Date received : 08 January 2003
                Date accepted : 19 November 2003
                Page count
                Figures: 2, Tables: 2, References: 106, Pages: 1
                Categories
                Subject: Minireview

                ScienceOpen disciplines: Cardiovascular Medicine,Nephrology
                Keywords: Bartter’s syndrome, pathophysiology,Sensorineural deafness,Salt-losing tubulopathies,Gitelman’s syndrome, pathophysiology
                Data availability:
                ScienceOpen disciplines: Cardiovascular Medicine, Nephrology
                Keywords: Bartter’s syndrome, pathophysiology, Sensorineural deafness, Salt-losing tubulopathies, Gitelman’s syndrome, pathophysiology

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