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NDT Advance Access originally published online on July 20, 2006
Nephrology Dialysis Transplantation 2006 21(10):2708-2717; doi:10.1093/ndt/gfl346
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© The Author [2006]. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Recent advances in understanding the clinical and genetic heterogeneity of Dent's disease

Michael Ludwig1,, Boris Utsch2 and Leo A. H. Monnens3

1Department of Clinical Biochemistry, University of Bonn, Bonn 2Department of Pediatrics, University of Erlangen-Nuremberg, Erlangen, Germany and 3Department of Pediatric Nephrology, University Medical Center Nijmegen, Nijmegen, The Netherlands

Correspondence and offprint requests to: Michael Ludwig, PhD, Department of Clinical Biochemistry, University of Bonn, Sigmund-Freud-Str. 25, D-53105 Bonn, Germany. Email: mludwig@uni-bonn.de

Keywords: CLCN5; Dent's disease 1; Dent's disease 2; intercalated cells; low molecular-weight proteinuria; proximal tubule; voltage-gated chloride channel and chloride/proton exchanger (ClC-5)

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



   Introduction
 
Dent's disease 1 (OMIM 300009 [OMIM] ) is an X-linked proximal tubulopathy [1] first described in 1964 [2], with Fanconi syndrome, a consistent renal abnormality, and low-molecular-weight proteinuria (LMWP) being almost always present. Nephrocalcinosis and renal stone formation occur more frequently in Dent's disease 1 than in other forms of Fanconi syndrome.

Various features of Dent's disease 1 predominate in different ethnic groups, and have been noted in earlier reports, resulting in several syndrome names of phenotypically similar disorders. These were referred to as X-linked recessive hypophosphataemic rickets (XLRH), X-linked recessive nephrolithiasis (XRN) and familial idiopathic LMWP in Japanese patients (JILMWP), often referred to as Dent's Japan disease [3,4]. All of these are now considered phenotypic variants of one unique entity, namely Dent's disease 1 [5,6].



   Clinical features of Dent's disease 1
 
Dent's disease 1 commonly presents in childhood or early adult life with symptoms . . . [Full Text of this Article]



   Dent's disease 1 and the CLCN5 gene
 


   Dent's disease 2
 


   Dent's disease—a polygenic disorder?
 


   Expression and localization of ClC-5
 


   Structure and function of ClC-5
 


   CLCN5 knock-out mice
 
Consequences for the acidification of the lysosome
Relation between decreased acidification of the lysosome and the basic defect of ClC-5
Consequences for the proximal tubule
Consequences for the reabsorption of peptides/proteins, phosphate, amino acids and glucose
Consequences for the medullary thick ascending limb
Consequences for {alpha}-intercalated cells
Consequences for the thyroid gland
Consequences for the intestine


   Possible treatments for Dent's diseases
 


   Phenotypic overlap in Dent's disease 1, Dent's disease 2 and Lowe syndrome
 

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