家族性高胆固醇血症研究进展  

Progress on familial hypercholesterolemia

作　　者：蒋琬姿 张丽雯[2] 贺彩红 阮梅花 季勇[4] 于建荣[2,3] 周红文 Wanzi Jiang;Liwen Zhang;Caihong He;Meihua Ruan;Yong Ji;Jianrong Yu;Hongwen Zhou(Department of Endocrinology,the First Affiliated Hospital of Nanjing Medical University,Nanjing 210029,China;Shanghai Information Center for Life Sciences,Shanghai Institute of Nutrition and Health,Chinese Academy of Sciences,Shanghai 200031,China;University of Chinese Academy of Sciences,Beijing 100049,China;Nanjing Medical University,Nanjing 210029,China)

机构地区：[1]南京医科大学第一附属医院内分泌科,南京210029 [2]中国科学院上海生命科学信息中心,中国科学院上海营养与健康研究所,上海200031 [3]中国科学院大学,北京100049 [4]南京医科大学,南京210029

出　　处：《遗传》2021年第11期1011-1022,I0002-I0019,共30页Hereditas（Beijing)

基　　金：国家重点研发计划项目(编号:2019YFA0802701,2018YFA0506904);国家自然科学基金重大研究计划项目(编号:91854122);国家自然科学基金专项项目(编号:L1924031)资助。

摘　　要：家族性高胆固醇血症(familial hypercholesterolemia,FH)是以肌腱黄瘤、低密度脂蛋白胆固醇(low density lipoprotein cholesterol,LDL-C)显著升高和早发冠心病(premature coronary artery disease,PCAD)为特征的一种常染色体显性或隐性遗传病。本文分析了FH的国内外研究现状,总结了目前中国已报道的FH人群相关的基因突变位点及治疗现状,同时统计了FH相关专利及药物研发情况。在论文发表方面,FH致病机制与治疗、未成年FH患者研究等成为研究热点;在专利方面,再生元制药、阿斯利康、默克等大型药企在FH检测、诊断、治疗等方面积极探索;在药物研发方面,已有12种药物在美国、日本、欧洲等国家/地区上市,为FH患者带来希望。Familial hypercholesterolemia(FH)is an autosomal inherited disease characterized by a significant increase in low density lipoprotein cholesterol(LDL-C),tendon xanthoma and premature coronary artery disease(PCAD).In this paper,we analyze the current research status of FH,summarize the reported mutation gene loci in Chinese FH patients and treatment for them,and elaborate the current status of patents and drug researches.The results show that scientific outcomes of FH are increasing with a good developmental trend and the most popular topics of FH study are pathogenesis,treatment of FH,and research on juvenile FH patients.In terms of patents,large pharmaceutical companies,such as Regeneron Phar-maceuticals Inc,AstraZeneca Plc,Merck&Co Inc,are actively engaged in FH detection,diagnosis and treatment.In addition,12 drugs have been launched in the United States,Japan,Europe and other countries or regions,bringing hope to FH patients.

关 键 词：家族性高胆固醇血症 罕见病 FH基因突变位点 研究现状 

分 类 号：R589.2[医药卫生—内分泌]