2,8-ジヒドロキシアデニン結石の1例

A CASE OF 2,8-HYDROXYADENINE URETERAL STONE

　41歳，男性．主訴は右腰背部痛．既往歴に結石はなく，母親に尿路結石の既往があるが，成分等詳細は不明．各種画像診断でX線陰性の右尿管結石と診断し，尿管切石術を施行した．結石の色調は黄褐色，硬度は柔らかい部分と堅い部分が混在し，成分は2,8—ジヒドロキシアデニンであった．患者の赤血球アデニン・フォスフォリボシルトランスフェラーゼ活性値は18％のホモ接合体で，患者の長男は44％のヘテロ接合体と思われた．

A 41-year-old male visited our hospital with chief complaint of right dull back pain. Radiological examination revealed radiolucent stone in the right ureter as well as moderate right hydronephrosis. Analysis of the stone, which was obtained by ureterolithotomy, revealed 2, 8-dihydroxyadenine. The adenine phospho-ribosyltransferase activity in erythrocytes was partially deficient. The treatment with allopurinol decreased the urinary excretion of 2, 8-dihydroxyadenine crystal and there have been no signs of recurrence.