Urolithiasis Due to 2,8-Dihydroxyadenine in an Adult

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Abstract
CARTIER and Hamet1 described a patient with calculi formed by 2,8-dihydroxyadenine in 1974. Such calculi are positive for uric acid with standard wet chemistry tests.2 The poorly soluble purine 2,8-dihydroxyadenine is excreted in the urine because of a deficiency in the adenine salvage enzyme adenine phosphoribosyltransferase (APRT).1 , 2 The defect is inherited as an autosomal recessive trait1 , 3; the homozygous state is associated with high urinary levels of 2,8-dihydroxyadenine and with crystalluria, calculus formation,4 and potential nephrotoxicity.2 , 5 The condition primarily presents as renal obstructive disease, but some patients have presented with advanced renal failure.2 , 6 Allopurinol therapy appears to be effective.7 Dihydroxyadenine . . .