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NDT Advance Access originally published online on April 6, 2005
Nephrology Dialysis Transplantation 2005 20(7):1476-1479; doi:10.1093/ndt/gfh799
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© The Author [2005]. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved. For Permissions, please email: journals.permissions@oupjournals.org

Case Report

CLCN5 mutation (R347X) associated with hypokalaemic metabolic alkalosis in a Turkish child: an unusual presentation of Dent's disease

Nesrin Besbas1, Fatih Ozaltin1, Nikola Jeck2, Hannsjörg Seyberth2 and Michael Ludwig3

1 Department of Pediatrics, Unit of Nephrology, Hacettepe University Faculty of Medicine, Ankara, Turkey, 2 Department of Pediatrics, Philipps University of Marburg and 3 Department of Clinical Biochemistry, University of Bonn, Bonn, Germany

Correspondence and offprint requests to: Nesrin Besbas, MD, Hacettepe University Faculty of Medicine, Department of Pediatric Nephrology, 06100 Sihhiye, Ankara, Turkey. Email: nbesbas@hacettepe.edu.tr

Keywords: chloride channel 5 (ClC-5); CLCN5 gene; Dent's disease; metabolic alkalosis

The first 150 words of the full text of this article appear below.



   Introduction
 
Dent's disease, an X-linked recessive tubular disorder, is characterized by low molecular weight proteinuria (LMWP) and nephrolithiasis associated with nephrocalcinosis and hypercalciuria. It is due to mutations that inactivate the renal voltage-gated chloride channel ClC-5 [1,2], which is encoded by a gene (CLCN5) located on chromosome Xp11.22. It is possible, however, that causative mutations were not identified in some patients with Dent's disease [3–6]. Renal acidification abnormalities have not been a consistent feature of the phenotype, probably being secondary to long-standing hypercalciuria and nephrocalcinosis. Hypokalaemic metabolic alkalosis, however, has not been reported previously in Dent's disease.

Inherited disorders that manifest hypokalaemic metabolic alkalosis, such as the Bartter–Gitelman syndrome or the hyperprostaglandin E syndrome (also referred to as antenatal Bartter's syndrome), are caused by the malfunction of renal tubular electrolyte transporters or ion channels. The hyperprostaglandin E syndrome is linked to the dysfunction . . . [Full Text of this Article]



   Case
 


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Home page
 Nephrol Dial TransplantHome page
M. Ludwig, B. Utsch, and L. A. H. Monnens
Recent advances in understanding the clinical and genetic heterogeneity of Dent's disease
Nephrol. Dial. Transplant., October 1, 2006; 21(10): 2708 - 2717.
[Full Text] [PDF]