2,8-dihydroxyadenine urolithiasis: review of the literature and report of a case in the United States

Abstract

Urolithiasis resulting from inherited metabolic derangement is rare. Only 13 cases of 2,8-dihydroxyadenine stones resulting from a deficiency of the enzyme adenine phosphoribosyl transferase have been reported since 1974. Of these cases 9 have been in children with the homozygous trait. To date, 3 homozygous and 1 heterozygous adults with urolithiasis have been reported. This disease has not been associated with any other clinical or biochemical abnormalities. Treatment includes low purine diet and allopurinol. We herein report a case of complete adenine phosphoribosyl transferase deficiency associated with 2,8-dihydroxyadenine urolithiasis in the United States, bringing the total to 14 in the literature.