家族性乳糜微粒血症综合征的研究进展  

Research progress in familial chylomicronemia syndrome

作　　者：梁芙萌 王方芳[1] 唐熠达 Liang Fumeng;Wang Fangfang;Tang Yida(Department of Cardiology and Institute of Vascular Medicine,Peking University Third Hospital,State Key Laboratory of Vascular Homeostasis and Remodeling,Peking University,NHC Key Laboratory of Cardiovascular Molecular Biology and Regulatory Peptides,Peking University,Beijing Key Laboratory of Cardiovascular Receptors Research,Beijing 100191,China)

机构地区：[1]北京大学第三医院心内科、血管医学研究所,血管稳态与重构全国重点实验室,国家卫生健康委心血管分子生物学与调节肽重点实验室,心血管受体研究北京市重点实验室,100191

出　　处：《中国心血管杂志》2024年第1期80-84,共5页Chinese Journal of Cardiovascular Medicine

基　　金：首都卫生发展科研专项(2022-2Z-40916)。

摘　　要：家族性乳糜微粒血症综合征是一种罕见的常染色体隐性遗传疾病,主要由脂蛋白脂肪酶基因突变引起,导致血浆中乳糜微粒浓度和三酰甘油水平显著升高。目前国内尚无有关家族性乳糜微粒血症综合征的诊疗指南,因此本文重点回顾并总结其流行病学、发病机制及临床诊疗进展。Familial chylomicronemia syndrome is a rare autosomal recessive disease,mainly caused by mutations in the lipoprotein lipase gene,leading to a significant increase of plasma chylomicrons and triglyceride levels.So far there is no guidelines on the diagnosis and treatment of familial chylomicronemia syndrome in China,this review summarized the epidemiology,pathogenesis,and clinical diagnosis and treatment progress of this disease.

关 键 词：家族性乳糜微粒血症综合征 多因素乳糜微粒血症综合征 脂蛋白脂肪酶 三酰甘油 胰腺炎 

分 类 号：R596.1[医药卫生—内科学]