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NDT Plus Advance Access originally published online on August 8, 2008
NDT Plus 2008 1(6):437-439; doi:10.1093/ndtplus/sfn110
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© The Author [2008]. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved. For Permissions, please e-mail: journals.permissions@oxfordjournals.org

2,8-Dihydroxyadeninuria-induced progressive renal failure

Fabrice Mac-Way1, Simon Desmeules1, Eva Latulippe2, Paul René de Cotret1 and Mohsen Agharazii1

1 Divisions of Nephrology
2 Pathology, Centre Hospitalier Universitaire de Québec, L’Hôtel-Dieu de Québec Hospital and Faculty of Medicine, Laval University, Quebec, Canada

Correspondence: Correspondence and offprint requests to: Mohsen Agharazii, Centre de Recherche de l’Hôtel Dieu de Québec, CHUQ-Hôtel-Dieu de Québec, 11, Cote du Palais, Quebec City, G1R 2J6, Canada. Tel: +1-418-691-5464; Fax: +1-418-691-5562; E-mail: mohsen.agharazii@crhdq.ulaval.ca

Key Words: acute renal failure • adenine phosphoribosyl-transferase deficiency • chronic kidney disease • 2,8-dihydroxyadeninuria • urolithiasis

Received for publication June 23, 2008. Accepted for publication July 15, 2008.

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


    Introduction
 
Adenine phosphoribosyl-transferase (APRT) is the key enzyme that transforms adenine into adenylate monophosphate (AMP). In case of APRT deficiency, xanthine oxidase rapidly oxidizes adenine into 2,8-dihydroxyadenine (2,8-DHA), which is then eliminated by the kidneys through tubular secretion. 2,8-DHA is insoluble at a physiologic range of pH; therefore, it can easily precipitate in the urine. Although subjects with APRT deficiency may have repeated kidney stones, some of these patients may remain asymptomatic throughout life [1,2]. Nevertheless, a handful of reports propose that APRT deficiency can also lead to 2,8-DHA crystal-induced acute or chronic renal failure [3,4].

In this paper, we report a case of a middle-aged man with APRT deficiency that led to 2,8-DHA crystal-induced chronic active tubulointerstitial nephritis.


    Case
 
A 59-year-old man . . . [Full Text of this Article]


    Discussion
 

    Teaching points
 

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