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NDT Advance Access published online on March 4, 2009
Nephrology Dialysis Transplantation, doi:10.1093/ndt/gfp095
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© The Author [2009]. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved. For Permissions, please e-mail: journals.permissions@oxfordjournals.org


EUNEFRON, the European Network for the Study of Orphan Nephropathies

Olivier Devuyst1, Iwan Meij2, Xavier Jeunemaitre3, Pierre Ronco3, Corinne Antignac3, Erik I. Christensen4, Nina V. Knoers5, Elena N. Levtchenko5, Peter M. Deen5, Dominik Müller2, Carsten A. Wagner6, Luca Rampoldi7, William G. van't Hoff8 and On behalf of the EUNEFRON consortium

1 UCL, Brussels, Belgium 2 Charité MDC, Berlin, Germany 3 INSERM, Paris, France 4 Univ. Aaarhus, Aaarhus, Denmark 5 RUNMC, Nijmegen, The Netherlands 6 Inst. Physiology, Univ. Zurich, Zurich, Switzerland 7 Dulbecco Telethon Inst., HSR, Milan, Italy 8 GOSH, London, UK

Correspondence and offprint requests to: Olivier Devuyst; E-mail: olivier.devuyst@uclouvain.be

Keywords: European consortium; genetic disorders; kidney disease; rare diseases

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



   Introduction
 
There are at least 60 rare inherited diseases affecting the kidney, which, although individually affecting less than one person in every 2000, have a large negative impact on the quality of life of the patients, often children, and their families [1,2]. The care of patients with rare nephropathies is hampered by major problems. Most of the diseases are chronically debilitating conditions, and some are life threatening. Their rarity and the phenotype variability imply limited knowledge of the underlying mechanism(s) and natural course, lack of standardization of diagnostic procedures and fragmentation of the clinical and biological data collections, with small cohorts restricting the power of clinical studies [3,4]. Furthermore, the low prevalence implies a lack of priority for the pharmaceutical industry and even public funding [5]. The establishment of multidisciplinary projects gathering a critical mass of expertise and patients, at the European level, is thus . . . [Full Text of this Article]



   Rationale and aims of the EUNEFRON consortium
 


   Overall structure of the programme
 


   Specific objectives of EUNEFRON
 
Disorders of the glomerulus
Disorders of the proximal tubule
Disorders of the thick ascending limb of Henle's loop
Disorders of the distal convoluted tubule
Disorders of the collecting duct
Registry and network of genetic laboratories


   Dissemination of knowledge through EUNEFRON
 


   Expected results
 

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