title: 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.
mesh_terms: D000225:Adenine / Q000031:analogs & derivatives* / Q000378:metabolism; D000228:Adenine Phosphoribosyltransferase / Q000172:deficiency*; D000493:Allopurinol / Q000627:therapeutic use; D002648:Child; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D008661:Metabolism, Inborn Errors / Q000235:genetics / Q000628:therapy; D010430:Pentosyltransferases / Q000172:deficiency*; D011687:Purines / Q000008:administration & dosage; D014481:United States; D014545:Urinary Calculi / Q000235:genetics* / Q000378:metabolism / Q000628:therapy
chemical_list: D011687:Purines; C002993:2,8-dihydroxyadenine; D000493:Allopurinol; D010430:Pentosyltransferases; D000228:Adenine Phosphoribosyltransferase; D000225:Adenine