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.
Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings.
Inherited kidney disorders associated with salt wasting, hypokalemia,and metabolic alkalosis (Bartter's syndrome) are clinicallyclassified into several variants1: classic Bartter's syndrome,2Gitelman's variant of Bartter's syndrome,3 and antenatal Bartter'ssyndrome (originally described as the hyperprostaglandin E syndrome).4The classic form and Gitelman's variant are characteristicallyaccompanied by hypokalemia during early infancy or adolescence,whereas the antenatal form is marked by polyhydramnios in themother, followed by severe volume depletion in the infant duringthe early neonatal period. Molecular genetic analyses of thedifferent forms of Bartter's syndrome have revealed mutationsin 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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