Nishida Y, Akaoka I, Nishizawa T, Maruki M, Aikawa T, Mitamura T, Yokohari R, Horiuchi Y
J Ment Defic Res. 1976 Dec;20(4):277-83. doi: 10.1111/j.1365-2788.1976.tb00954.x.
Gouty arthritis developed in a twenty-one-year-old male whose karyotyping showed Trisomy 21. His serum urate level was 13.1 mg per 100 ml and his twenty-four-hour urinary uric acid excretion was 431 mg on a low purine diet. Uric acid clearance was decreased to 3.9 ml per minute. The cumulative incorporation of N15-glycine into urinary uric acid during successive seven days was 0.144 per cent, which was within the normal range. Diminished uric acid clearance may be attributed to this hyperuricaemia. The cause of gouty arthritis and Down's syndrome in the patient is discussed.
一名21岁男性患痛风性关节炎,其染色体核型显示21三体。在低嘌呤饮食情况下,他的血清尿酸水平为每100毫升13.1毫克,24小时尿尿酸排泄量为431毫克。尿酸清除率降至每分钟3.9毫升。连续七天期间,N15 - 甘氨酸累积掺入尿尿酸的比例为0.144%,在正常范围内。尿酸清除率降低可能归因于这种高尿酸血症。文中讨论了该患者痛风性关节炎和唐氏综合征的病因。