Adenine phosphoribosyltransferase 部分欠損症による尿路結石の1例

概要

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A 38-year-old male who had urolithiasis due to partial deficiency of adenine phosphoribosyltransferase was presented. The patient who had a past history of urolithiasis was admitted with complaints of left flank pain in January 1978. Plain X-ray films revealed no calcific shadow. Intravenous pyelography and retrograde pyelography showed radiolucent stones in the left upper urinary tract. On January 18, 1978, left ureterolithotomy was performed. Stone analysis with the infrared spectrum, the ultraviolet spectrum, the mass spectrum and the X-ray diffraction spectrum showed that these stones were composed of 2,8-dihydroxyadenine. Erythrocyte hemolysate activity of adenine phosphoribosyltransferase in the patient was about 30% of normal. Our case seemed to be a heterozygote for adenine phosphoribosyltransferase deficiency.
社団法人日本泌尿器科学会の論文