Ohne T, Fujito A, Koga K, Imaide Y, Uchida M
Department of Urology, Koga General Hospital.
Hinyokika Kiyo. 1998 Oct;44(10):725-8.
A 35-year-old female was referred to our clinic with a complaint of left flank pain in 1993. Drip infusion pyelography showed a filling defect of 25 x 24 mm in size in the left ureteropelvic junction. Computed tomography and ultrasonography revealed it as the renal stone. Percutaneous nephroureterolithotomy and extracorporeal shock-were lithotomy were performed. The stone was composed of 2,8-dihydroxyadenine (DHA). The patient was diagnosed as having a partial deficiency of adenine phosphoribosyltransferase (APRT) from the low APRT activity and a genotype of a compound heterozygote APRTJ/APRTQ0 by T-cell analysis. The urinary excretion of 2,8-DHA crystals disappeared by the postoperative treatment with allopurinol. Cases of 2,8-DHA urolithiasis reported in the Japanese literature are discussed.
1993年，一名35岁女性因左侧腰痛前来我院就诊。静脉肾盂造影显示左输尿管肾盂连接处有一个大小为25×24毫米的充盈缺损。计算机断层扫描和超声检查显示为肾结石。进行了经皮肾输尿管取石术和体外冲击波碎石术。结石由2,8 - 二羟基腺嘌呤（DHA）组成。通过T细胞分析，患者因腺嘌呤磷酸核糖转移酶（APRT）活性低和复合杂合子APRTJ/APRTQ0基因型被诊断为APRT部分缺乏。术后用别嘌呤醇治疗后，2,8 - DHA晶体的尿排泄消失。文中讨论了日本文献中报道的2,8 - DHA尿路结石病例。
