Nagae A, Murakami E, Hiwada K, Sato Y, Kawachi M, Kono N
Second Department of Internal Medicine, Ehime University School of Medicine, Japan.
Jpn J Med. 1990 May-Jun;29(3):287-91. doi: 10.2169/internalmedicine1962.29.287.
A 22-year-old man with hereditary xanthinuria is reported. A biochemical study of the patient showed elevated serum levels of xanthine and hypoxanthine with concomitant increases in urinary excretion of xanthine and hypoxanthine. The xanthine oxidase activity in the duodenal mucosa of the patient was about 1.5% of normal value. Urinary excretion of xanthine and hypoxanthine of his parents and his eldest brother were significantly higher than the corresponding normal values, but the values were much less than those of the patient. The results suggested that the patient was homozygote, and his parents and his eldest brother were heterozygotes.
报道了一名患有遗传性黄嘌呤尿症的22岁男性。对该患者的生化研究显示，血清黄嘌呤和次黄嘌呤水平升高，同时尿中黄嘌呤和次黄嘌呤排泄量增加。患者十二指肠黏膜中的黄嘌呤氧化酶活性约为正常值的1.5%。其父母和大哥尿中黄嘌呤和次黄嘌呤的排泄量显著高于相应的正常值，但远低于该患者的值。结果表明该患者为纯合子，其父母和大哥为杂合子。
