2,8-ジヒドロキシアデニン結石症の1例

A CASE REPORT OF 2,8 DIHYDROXYADENINE URELITHIASIS

　症例は37歳男性。繰り返す結石の排石の精査で受診。尿沈渣所見，結石分析から2,8-ジヒドロキシアデニン結石症と診断。アデニンホスホリボシルトランスフェラーゼ（APRT）活性の測定ではAPRP部分欠損症を示し，遺伝子検索ではAPRT^＊J／APRT^＊Q0という稀な遺伝子型を持つ症例であった。

A 37-year-old man presented to our hospital with a history of recurrent urelithiasis. Specific round crystals were seen in his urinary sediment. Spectrophotometric analysis revealed an absorption spectrum for 2,8-DHA. APRT enzyme activity was 1.0nmol/hr/mg protein and corresponded to 3.8-7.1% of the control activity, so the diagnosis of APRT partial deficiency was made. He hada rare genotype of APR^T*J/APRT^*Q0.