2, 8-Dihydroxyadenine結石症の1例

A CASE REPORT OF 2,8-DIHYDROXYADENINE UROLITHIASIS

緒言

　2,8-Dihydroxyadenine（以下，2,8-DHAと略す）結石症は，プリン代謝に関与する酵素のうち，Adenine-Phosphoribosyl-Transferase（以下，APR-Taseと略す）が欠損することにより生ずる代謝性結石であり，従来，稀な疾患とされてきた。

　最近，われわれは，本疾患を経験し，尿沈渣でみられる2,8-DHAの独特の結晶が診断上有用であることを確認したので，本症例とともに報告する。

A 41-year-old male visited our hospital with chief complaint of left dull back pain. X-P examina-tions suggested radiolucent stones with bilateral severe hydronephrosis and hydroureter. RP showed that there were defects of contrast medium in both upper urinary tracts. Analysis of the stone, which was obtained by urethrolithotomy, revealed 2,8-DHA.

Although firm diagnosis of 2,8-DHA is obtained only by infrared electro-photometer, clinical finding of the round crystal with radial crannies in the urine sediment is useful not only for diagnosis but also for the judgement of efficacy of the treatment.