Ciompi M L, Bazzichi L M, Bertolucci D, Mazzoni M R, Barbieri P, Mencacci S, Macchia D, Mariani G
Clin Rheumatol. 1984 Jun;3(2):229-33. doi: 10.1007/BF02030760.
Two patients with coexistent Down's syndrome and gout are described. Although increased serum urate levels are frequently reported in Down's syndrome, only a few such patients have been described with concomitant gout. In our patients no significant alterations of the purine salvage pathway were found, and the turnover parameters of uric acid, determined by means of a 14C-labeled uric acid study, were consistent with the metabolic findings observed in normoexcretor gouty patients.
本文描述了两名同时患有唐氏综合征和痛风的患者。尽管唐氏综合征患者血清尿酸水平升高的情况屡有报道,但仅有少数此类患者同时患有痛风。在我们的患者中,未发现嘌呤补救途径有明显改变,通过14C标记尿酸研究测定的尿酸周转参数与正常排泄型痛风患者的代谢结果一致。