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NDT Plus Advance Access published online on June 19, 2008
NDT Plus, doi:10.1093/ndtplus/sfn072
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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

Is adenine phophorybosiltransferase deficiency a still underdiagnosed cause of urolithiasis and chronic renal failure? A report of two cases in a family with an uncommon novel mutation

Italia Perruzza1, Valentina Di Pietro2, Barbara Tavazzi2, Giuseppe Lazzarino3, Marco Gamberini1, Paola Barsotti4, Angela Maria Amorini3, Bruno Giardina2 and Alessandro Balducci1

1 Department of Nephrology, Azienda Ospedaliera S. Giovanni-Addolorata, Rome
2 Institute of Biochemistry and Clinical Biochemistry, Catholic University of Rome, Rome
3 Department of Chemical Sciences, Laboratory of Biochemistry, University of Catania, Catania
4 Department of Experimental Medicine and Pathology, University of Rome "La Sapienza", Rome, Italy

Correspondence: Alessandro Balducci, S. Giovanni-Addolorata Hospital, Nephrology Department, Via dell’Amba Aradam, 9, 00184-Rome, Italy; Tel: +39 06 77055222; Fax: +39 06 77058145. E-mail: albalducci{at}infinito.it


  Abstract

We describe two patients that had a history of recurrent renal stones and chronic renal insufficiency. The first case was a 51-year-old man with an adenine phophoribosyltransferase (APRT) deficiency who was diagnosed only after he had been referred for severe renal failure requiring hemodialysis. This led to a screening of the entire family, which identified six carriers and an additional affected relative (a 41-year-old man and the second case reported herein). Genetic analysis of the APRT gene revealed an atypical mutation previously described only once in a compound heterozygote.

Key Words: adenine phosphoribosyltransferase (APRT) deficiency • 2,8-dihydroxyadenine (2,8-DHA) • renal failure • urolithiasis

Received for publication September 2, 2007. Accepted for publication May 28, 2008.


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