2，8ジヒドロキシアデニン尿路結石症の1例

2, 8-DIHYDROXYADENINE UROLITHIASIS ASSOCIATED WITH AN INCOMPLETE ADENINE PHOSPHORI BOSYLTRANSFERASE DEFICIENCY : A CASE REPORT

　18歳，男性。左側腹部痛を主訴に当科外来を受診した。受診時米粒大の小結石を排出しその成分は2,8-dihydroxyadenineであった。患者の赤血球Adenine Posphoribosyltransferase酵素活性値の低下が認められ，その酵素の部分欠損による尿路結石症と診断した。現在低プリン食とアロプリノール100mg/日の投与で結石の再発を認めていない。

We herein reported a case of 2, 8-dihydroxyadenine urolithiasis associated with a partial adenine phosphor-ibosyltransferase deficiency. The patient was an 18-year -old man visited our clinic because of left flank colic pain. Then, small brown-colored stones were spontane-ously excreted in urine. Analysis of stones revealed 2, 8 -dihydroxyadenine and the adenine phosphoribosyltrans-ferase activity of his erythrocytes was below normal limits. After he was given allopurinol 100 mg per day with low purine diet, the urinary excretion of 2, 8-dihydrox-yadenin has been well controlled.