原发性痛风与高尿酸血症相关基因的研究进展  

Progress of Primary Gout and Hyperuricemia Associated Genes

作　　者：唐莹莹[1] 成志锋[1] 

机构地区：[1]哈尔滨医科大学附属第四医院内分泌科,哈尔滨150001

出　　处：《医学综述》2015年第19期3483-3485,共3页Medical Recapitulate

摘　　要：遗传因素是痛风发病的一个重要因素。高尿酸血症和痛风的易感性在全基因组关联研究和Meta的研究中已经有了显著的提高。基因的突变是涉及嘌呤的酶类编码和尿酸产生过多,及细胞过度凋亡和三磷酸腺苷退化的结果。而肾脏尿酸盐的吸收和分泌平衡是决定血清尿酸水平的主要因素,突变所导致的基因功能缺失可引起高尿酸血症与遗传性肾脏疾病。Genetic factor is an important factor in the pathogenesis of gout. Hyperuricemia and gout susceptibility genome-wide association studies and Meta-research have been significantly improved. Gene mutation is the result of purine enzymes encoding genes and excessive uric acid,and the excessive cell apop-tosis and adenosine triphosphate degradation. The balance of absorption and secretion of urate in kidney is a major factor determining the serum concentration of uric acid,and gene mutations caused loss of function may lead to hyperuricemia and hereditary kidney disease.

关 键 词：痛风 高尿酸血症 基因 代谢综合征 

分 类 号：R825.8[医药卫生—临床医学]