title: [An aged case of hereditary xanthinuria with xanthine urinary calculi].
abstract: A 74-year-old female with hereditary xanthinuria and xanthine stones is reported. She has a family history of consanguineous parents and a past history of right side nephrectomy due to a xanthine renal stone and vesicolithotomy of 3 bladder stones approximately 5 X 4 X 4 cm in size at the age of 58 and 71, respectively. Her young brother exhibited a slightly elevated urinary excretion of oxypurines. Laboratory examination showed a low serum level (0.3 mg/dl) and urinary excretion (1.56 mg/day) of uric acid, and high plasma and urine levels of oxypurines. No xanthine oxidase activity was detectably in duodenal mucosa by biopsy specimen obtained by duodenofiberscopy. Now she has another stone approximately 5 X 4 X 4 cm in her bladder. There have been are few elderly cases of hereditary xanthinuria with recurrent giant urolithiasis.
authors.affiliation: Department of Internal Medicine, Awaji-Hokutan Public Clinic.
authors.forename: K
authors.initials: K
authors.lastname: Kario
authors.forename: T
authors.initials: T
authors.lastname: Matsuo
authors.forename: K
authors.initials: K
authors.lastname: Nakao
mesh_terms: D000368:Aged; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007669:Kidney Calculi / Q000652:urine; D001744:Urinary Bladder Calculi / Q000652:urine; D014545:Urinary Calculi / Q000652:urine*; D014970:Xanthines / Q000652:urine*
chemical_list: D014970:Xanthines