Adenine phosphoribosyltransferase部分欠損症による2,8-dihydroxyadenine腎結石の1例

Abstract

A case of 2, 8-dihydroxyadenine renal stones was presented. The patient, a 36-year-old woman, was diagnosed as bilateral renal stones in 1966. Radiologic examination revealed bilateral multiple renal stones. In May 1970 left renal stones were removed surgically. The removed stones were not analyzed at that time. After then her total renal function gradually deteriorated. In October 1978 right renal stones were removed surgically. The serum creatinine level was 6.4 mg/dl. An analysis of the removed stones showed them to be mainly composed of 2, B-dihydroxyadenine. Determination of adenine phosphoribosyltransferase activity in erythrocyte lysate showed a partial deficiency of adenine phosphoribosyltransferase. This case is the ninth case of 2, 8-dihydroxyadenine stone in the world. The 2, 8-dihydroxyadenine stone accompanied with a partial deficiency of adenine phosphoribosyltransferase was the third in the world. We presented the summary of the case and discussed the analytical methods of the stone.