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遗传性黄嘌呤尿可引起黄嘌呤肾结石病,是一种嘌呤代谢紊乱的常染色体隐性遗传性疾病。本病大多无症状而在常规实验室筛查时发现:低尿酸血症,尿中尿酸排泄减少,黄嘌呤和次黄嘌呤排泄明显增多。本病分为两类;(1)单纯黄嘌呤氧化酶缺乏;(2)黄嘌呤氧化酶和亚硫酸盐氧化酶复合物中的含钼辅因子缺乏。后者往往表现严重的神经系统症状,可于生后第2周死亡。据报道黎巴嫩血统的单纯黄嘌呤氧化酶患病率高。
Hereditary xanthine urine can cause xanthine nephrolithiasis, is an autosomal recessive genetic disorder of purine metabolism. Most of the disease is asymptomatic and found in routine laboratory tests: low uric acid, urinary excretion of uric acid decreased, xanthine and hypoxanthine excretion increased significantly. The disease is divided into two categories; (1) pure xanthine oxidase deficiency; (2) xanthine oxidase and sulfite oxidase complex containing molybdenum cofactor deficiency. The latter often exhibit severe neurological symptoms and can die during the second week of life. The prevalence of pure xanthine oxidase in Lebanese descent is reportedly high.