Ichida K, Yoshida M, Sakuma R, Hosoya T
Second Department of Internal Medicine, the Jikei University School of Medicine, Tokyo.
Intern Med. 1998 Jan;37(1):77-82. doi: 10.2169/internalmedicine.37.77.
Two brothers with classical xanthinuria who lacked xanthine dehydrogenase activity were encountered. Their hypouricemia was caused by underproduction of uric acid. In their duodenal mucosa, no xanthine dehydrogenase (oxidase) activity was detected. The patients had no symptoms except for duodenal ulcer in one case. The conversion of allopurinol to oxipurinol during an allopurinol loading test for determining the type of classical xanthinuria revealed that the patients had classical type 1 xanthinuria, because aldehyde oxidase activity was present. Furthermore, the allopurinol loading test was conducted to determine the optimal examination times and specimens required for this test.
我们遇到了两名患有典型黄嘌呤尿症且缺乏黄嘌呤脱氢酶活性的兄弟。他们的低尿酸血症是由尿酸生成不足引起的。在他们的十二指肠黏膜中，未检测到黄嘌呤脱氢酶（氧化酶）活性。除了其中一例患有十二指肠溃疡外，患者没有其他症状。在用于确定典型黄嘌呤尿症类型的别嘌醇负荷试验中，别嘌醇向奥昔嘌醇的转化表明患者患有典型的1型黄嘌呤尿症，因为存在醛氧化酶活性。此外，还进行了别嘌醇负荷试验以确定该试验所需的最佳检查时间和标本。
