论文部分内容阅读
本病为嘌呤代谢障碍的遗传病,系患者体内嘌呤代谢的一种酶——次黄嘌呤-鸟嘌呤磷酸核糖基转移酶的完全或部分的缺乏,其严重的代谢后果是嘌呤更新代谢的大量过度合成,导致体液中尿酸含量显菩增高。本病主要见于男性,但病态基因的携带则通过女性,形成伴随X性染色体的隐性伴X型式遗传。病理上
The disease is a genetic disease of purine metabolism, Department of the body purine metabolism of the enzyme - hypoxanthine - guanine phosphoribosyltransferase complete or partial lack of its serious metabolic consequences of metabolism of purine metabolism in large quantities Over-synthesis, resulting in body fluid uric acid was significantly higher Bodhisattva. The disease is mainly seen in males, but the carriage of pathogenic genes is through the female, forming a recessive X-type inheritance with the X-chromosome. Pathologically