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Ann Clin Biochem. 2004 Mar;41(Pt 2):160-1.

2,8-Dihydroxyadenine renal stones in a 41-year-old man.

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  • 1Department of Biochemistry, York Hospital, York, YO31 8HE, UK.


A case is presented of a 41-year-old man with a history of recurrent renal stones over 10 years. Analysis of the stone showed that, although it gave a positive reaction with the non-specific phosphotungstic acid test, uricase failed to identify any urate present. Analysis in a reference laboratory confirmed its composition as dihydroxyadenine. Patients who are homozygous for the rare autosomal-recessive adenine phosphoribosyltransferase deficiency, excrete large amounts of 2,8-dihydroxyadenine, which has poor solubility at normal urinary pH. Treatment with the xanthine oxidase inhibitor allopurinol induces a total cessation of stone formation. Increased awareness of the condition and knowledge of the limitations of some methods of laboratory analysis for renal stones should help to identify this type of stone and prevent renal damage.

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