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NDT Advance Access originally published online on June 8, 2006
Nephrology Dialysis Transplantation 2006 21(8):2301-2303; doi:10.1093/ndt/gfl277
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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

Case Report

Stop codon at arginine 586 is the prevalent nephronopthisis type 1 mutation in Italy

Gianluca Caridi1, Monica Dagnino1, Antonella Trivelli2, Francesco Emma3, Francesco Perfumo2 and Gian Marco Ghiggeri1

1 Laboratory on Pathophysiology of Uremia and, 2 Renal Section, Istituto Giannina Gaslini, Genova, and 3 Nephrology Section, Ospedale Bambin Gesù, Roma, Italy

Correspondence and offprint requests to: G. M. Ghiggeri, MD, Laboratory on Pathophysiology of Uremia, G. Gaslini Children Hospital, Largo G. Gaslini 5, 16148 Genova, Italy. Email: labnefro@ospedale-gaslini.ge.it

Keywords: nephronophthisis; mutation analysis

The first 10% of the full text of this article appears below.



   Introduction
 
Nephronophthisis (NPHP) is an autosomal recessive disease with prevalent renal manifestations, characterized by occasional cysts in medulla and severe tubulo-interstitial fibrosis, evolving to end-stage renal failure [1]. It represents the most frequent cause of uraemia in children, with major clinical, physiological and social consequences including high costs for substitutive approaches and renal transplant. NPHP is a clinical and genetic heterogeneous disease with at least five genes (NPHP1–5) identified and variable extra-renal manifestations [2–6]. Retinal dysfunction constituting Senior Loken syndrome (SLS1–5) is the most common association [1]. Other organ defects identify specific subsets such as liver fibrosis in NPHP3 and situs inversus in NPHP2. NPHP1 [OMIM . . . [Full Text of this Article]



   Case
 


   Results
 


   Discussion
 

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[Abstract] [Full Text] [PDF]