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Original Article
Brief Report
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Volume 350:1314-1319 March 25, 2004 Number 13
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Salt Wasting and Deafness Resulting from Mutations in Two Chloride Channels
Karl P. Schlingmann, M.D., Martin Konrad, M.D., Nikola Jeck, M.D., Petra Waldegger, Stephan C. Reinalter, M.D., Martin Holder, M.D., Hannsjörg W. Seyberth, M.D., and Siegfried Waldegger, M.D.

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by Bichet, D. G.

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Inherited kidney disorders associated with salt wasting, hypokalemia, and metabolic alkalosis (Bartter's syndrome) are clinically classified into several variants1: classic Bartter's syndrome,2 Gitelman's variant of Bartter's syndrome,3 and antenatal Bartter's syndrome (originally described as the hyperprostaglandin E syndrome).4 The classic form and Gitelman's variant are characteristically accompanied by hypokalemia during early infancy or adolescence, whereas the antenatal form is marked by polyhydramnios in the mother, followed by severe volume depletion in the infant during the early neonatal period. Molecular genetic analyses of the different forms of Bartter's syndrome have revealed mutations in various genes encoding ion channels and transporters . . . [Full Text of this Article]

Case Report

Methods

Preparation and Analysis of DNA

Expression in Xenopus laevis Oocytes and Voltage-Clamp Analysis

Statistical Analysis

Results

Discussion


Source Information

From the Department of Pediatrics, Philipps University of Marburg, Marburg (K.P.S., M.K., N.J., P.W., S.C.R., H.W.S., S.W.); and the Department of Pediatric Nephrology, Olgahospital Stuttgart, Stuttgart (M.H.) — both in Germany.

Address reprint requests to Dr. Seyberth at the Department of Pediatrics, Philipps University of Marburg, Deutschhausstr. 12, 35033 Marburg, Germany, or at seyberth@staff.uni-marburg.de.



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