摘要
近年来原发性高尿酸血症和痛风的发病率逐年上升,高尿酸血症为痛风的早期阶段,长期高尿酸血症除易诱发痛风外,尚易累及肾脏和心脑血管系统,导致严重的肾脏及心脑血管疾病,但其遗传模式和易感基因尚不清楚。近年来的研究发现,嘌呤代谢过程中关键酶的缺陷及4个尿酸盐转运蛋白基因变异与高尿酸血症和痛风相关。本文对高尿酸血症和痛风的遗传模式、相关的易感基因及其染色体定位进行综述。
The incidence of primary hypemricemia and gout are increased steadily. Hypentricemia is the early stage of gout, and long-term hypemricemia can not only induce gout, but also influence renal and cardio-,cerebrovascular system. Therefore, it can cause severe renal and cardio-, cerebrovascular diseases. But the inheritant pattern and susceptible genes are not clear. Recent studies show the defect of enzymes in purine metabolism and the mutation in 4 urate transport protein genes play very important roles in the pathogenesis of hyperuricemia and gout. This paper reviews the recent findings in the susceptible genes, their chromosomal location and the inhefitant pattern of hyperuricemia and gout.
出处
《国际内分泌代谢杂志》
2006年第3期184-186,共3页
International Journal of Endocrinology and Metabolism
基金
国家自然科学基金资助项目(30470821)
关键词
高尿酸血症
痛风
易感基因
Primary hyperuricemia
Primary gout
Susceptible gene
