title: Family study of 2,8-dihydroxyadenine stone formation: report of two cases of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APRT*Q0).
abstract: The family members of 2 formers of 2,8-dihydroxyadenine stones were examined for history, adenine phosphoribosyltransferase (APRT) activity, genotype, urinary sediment, and urinary constituents. The patients' father showed a genotype of APRT*1/APRT*Q0, and their mother showed APRT*1/APRT*J. Patients 1 and 2 were compound heterozygotes for adenine phosphoribosyltransferase deficiency (APRT*J/APRT*Q0), and APRT activities were 4.5% and 4.0% of normal, respectively. 2,8-Dihydroxyadenine crystals could be seen in the urinary sediment. Treatment with allopurinol completely stopped new stone formation for 5 years in patient 1.
authors.affiliation: Department of Urology, Kanazawa Medical University, Ishikawa, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Suzuki
authors.forename: S
authors.initials: S
authors.lastname: Kobayashi
authors.forename: K
authors.initials: K
authors.lastname: Kawamura
authors.forename: T
authors.initials: T
authors.lastname: Kuhara
authors.forename: R
authors.initials: R
authors.lastname: Tsugawa
mesh_terms: D000225:Adenine / Q000031:analogs & derivatives* / Q000378:metabolism; D000228:Adenine Phosphoribosyltransferase / Q000172:deficiency* / Q000235:genetics; D000328:Adult; D005192:Family Health; D005260:Female; D005838:Genotype; D006801:Humans; D007669:Kidney Calculi / Q000737:chemistry / Q000201:enzymology* / Q000235:genetics*; D008297:Male; D010375:Pedigree; D014556:Urine / Q000737:chemistry
chemical_list: C002993:2,8-dihydroxyadenine; D000228:Adenine Phosphoribosyltransferase; D000225:Adenine