摘要
家族性高胆固醇血症(FH)是脂蛋白代谢异常所导致的遗传性疾病,通常为常染色体显性遗传,由于长期暴露于高水平低密度脂蛋白下,FH患者发生冠状动脉疾病的风险显著升高。基因检测对FH的诊断至关重要,除此之外,低密度脂蛋白受体功能检测对FH的治疗也具有重要意义。本文将从FH的诊断筛查、治疗方案及低密度脂蛋白受体功能检测等方面进行综述。
Familial hypercholesterolemia(FH) is an autosomal dominant inherited disease caused by abnormal lipoprotein metabolism. Patients with FH have a significantly increased risk of coronary artery disease(CAD) due to long-term exposure to high levels of low-density lipoprotein(LDL). The diagnosis of FH relies heavily on gene detection, and examination of LDL receptor(LDLR) function is of great significance in its treatment. This review summarizes the current advances in the screening, diagnosis, and treatment of FH and functional analysis of LDLR gene mutations.
作者
郑华
姜思捷
林立龙
ZHENG Hua;JIANG Sijie;LIN Lilong(Department of Cardiology,Nanfang Hospital,Southern Medical University,Guangzhou 510515,China)
出处
《南方医科大学学报》
CAS
CSCD
北大核心
2023年第1期153-156,F0003,共5页
Journal of Southern Medical University
关键词
家族性高胆固醇血症
低密度脂蛋白受体
基因检测
familial hypercholesterolemia
low density lipoprotein receptor
gene detection