Temperville B, Godin M, Dubois D, Fillastre J P
Sem Hop. 1979;55(41-42):1899-902.
Xanthinuria is a rare hereditary disorder characterized by a gross deficiency of the enzyme xanthine oxydase resulting in hypouricemia, hypouricosuria and increased serum and urinary oxypurines. Three patients with this disease are presented and the pertinent literature is reviewed. We have demonstrated in one subject the absence of xanthine oxydase activity in a renal fragment. Genetic studies were performed but we do not find any relation between this deficiency of enzyme xanthine oxydase and HLA, Pl, Gm groups.
黄嘌呤尿症是一种罕见的遗传性疾病,其特征是黄嘌呤氧化酶严重缺乏,导致低尿酸血症、低尿酸尿症以及血清和尿中氧嘌呤增加。本文报告了3例患有这种疾病的患者,并对相关文献进行了综述。我们在一名患者的肾组织碎片中证实了黄嘌呤氧化酶活性缺失。进行了基因研究,但我们未发现黄嘌呤氧化酶缺乏与HLA、P1、Gm组之间存在任何关联。