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Nephrol Dial Transplant (2004) 19: 736-738
Nephrol Dial Transplant Vol. 19 No. 3 (c) ERA-EDTA 2004; all rights reserved

Case Report

Diagnosis of adenine phosphoribosyltransferase deficiency as the underlying cause of renal failure in a renal transplant recipient

Michael J. D. Cassidy1, Tom McCulloch2, Lynette D. Fairbanks3 and H. Anne Simmonds3

1Renal and Transplant Unit and 2Department of Pathology, Nottingham City Hospital NHS Trust, Nottingham and 3Purine Research Unit, Guy's Hospital, London, UK

Correspondence and offprint requests to: M. Cassidy, Renal and Transplant Unit, Nottingham City Hospital NHS Trust, Nottingham NG5 1PB, UK. Email: mcassidy@ncht.trent.nhs.uk

Keywords: APRT deficiency; crystalluria; interstitial nephritis; renal stones; renal transplant

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   Introduction
 
Adenine phosphoribosyltransferase (APRT) deficiency is a rare inborn error of metabolism first described in the UK in 1976 [1]. It is inherited as an autosomal recessive trait and the gene is located on chromosome 16. APRT is a salvage enzyme that normally catalyses the conversion of adenine to adenine monophosphate using PP-ribose-P. Deficiency results in adenine accumulation with conversion to and excretion of 2,8-dihydroxyadenine (2,8-DHA) in the urine. 2,8-DHA is protein-bound in plasma, but is extremely insoluble in urine at any pH. Tubular crystal deposition can occur associated with marked interstitial fibrosis and/or urolithiasis. Since its original description, APRT deficiency has been recognized increasingly as a cause . . . [Full Text of this Article]



   Case
 


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