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NDT Advance Access originally published online on June 25, 2007
Nephrology Dialysis Transplantation 2007 22(10):3070-3073; doi:10.1093/ndt/gfm362
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© The Author [2007]. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org


Outcome of kidney transplantation in familial juvenile hyperuricaemic nephropathy

Laura Labriola1, Kar in Dahan2 and Yves Pirson1

1Nephrology, Cliniques Universitaires St Luc. Université Catholique de Louvain, Brussels and 2Centre de Génétique Médicale, Cliniques Universitaires St Luc, Université Catholique de Louvain, Brussels, Belgium

Correspondence and offprint requests to: Prof. Yves P irson, Cliniques Universitaires St. LUC (UCL) Service de Nephrology Avenue Hippocrate 10 1200 Bruxelles Email: pirson@nefr.ucl.ac.be; madeleine.putmans@clin.ucl.ac.be

Keywords: familial juvenile hyperuricaemic nephropathy; transplantation; UMOD nephropathy

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



   Introduction
 
Familial juvenile hyperuricaemic nephropathy (FJHN) and medullary cystic kidney disease (MCKD) are rare autosomal-dominant disorders, both characterized by early hyperuricaemia due to reduced urinary excretion of urate and the development of chronic interstitial nephropathy, most often leading to end-stage renal failure (ESRF) in adulthood. Although a history of gout is more frequently reported in FJHN and cortico-medullary renal cysts more frequently found in MCKD, both phenotypes overlap [1]. Two loci for MCKD (MCKD1 and MCKD2) were localized to chromosome 1q21 and 16p12, respectively [2,3]. A locus for FJHN was mapped to chromosome 16p11.2, in a region overlapping with the MCKD2 locus, raising the hypothesis that FJHN and MCKD2 were two facets of the same disease [4]. This was demonstrated by the identification of mutations in the UMOD gene encoding uromodulin (or Tamm-Horsfall protein) in three families with FJHN and one . . . [Full Text of this Article]



   Cases
 


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F. Hubert, K. Dahan, J.-P. Cosyns, O. Devuyst, and Y. Pirson
Mild chronic renal failure with a family history of kidney disease
NDT Plus, October 1, 2009; 2(5): 415 - 417.
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