基因检测早期诊断家族性高胆固醇血症一家系临床及遗传特点分析  

Genetic testing for early diagnosis of familial hypercholesterolemia and analysis of clinical and genetic characteristics of a family with familial hypercholesterolemia

作　　者：徐峰 林凯俊 丁远亮 曹春艳 杨康[1] 王柠 林珉婷[1] XU Feng;LIN Kai-jun;DING Yuan-liang;CAO Chun-yan;YANG Kang;WANG Ning;LIN Ming-ting(Department of Neurology,The First Affiliated Hospital of Fujian Medical University,Fuzhou 350000,China;Department of Neurology,The First Affiliated Hospital of Henan University of Science and Technology,Luoyang 471000,China)

机构地区：[1]福建医科大学附属第一医院神经内科,福建福州350000 [2]河南科技大学第一附属医院神经内科,河南洛阳471000

出　　处：《实用医院临床杂志》2024年第5期17-21,共5页Practical Journal of Clinical Medicine

基　　金：福建省财政厅项目2021年卫生健康省级专项补助经费《神经系统疾病生物样本库建设项目》(编号:BPB-LMT2021)。

摘　　要：目的通过基因检测早期诊断家族性高胆固醇血症(familial hypercholesterolemia,FH)一家系,旨在提高临床医生对FH的识别及诊断能力,早期进行干预治疗。方法收集就诊于福建医科大学附属第一医院神经内科高胆固醇血症家系的临床资料,并进行基因测序分析。结果家系成员中有7例发现存在高血胆固醇、高血低密度脂蛋白胆固醇(LDL-C),患者年龄8~59岁。Ⅱ5因反复心绞痛,检查发现冠脉狭窄行冠状动脉支架置入术。基因检测发现所有患者均存在LDLR基因Exon13 c.1879 G>A(p.A627T)位点杂合突变,最终诊断为FH。结论FH起病隐匿,早期无明显临床症状,极易漏诊。基因检测技术对FH患者及其亲属进行遗传筛查,不仅有助于早期诊断,还可根据基因型进行个体化治疗,特别是对儿童患者的预防性治疗具有重要意义。Objective To early diagnose a family with familial hypercholesterolemia(FH)through genetic testing in order to improve the ability of clinicians to identify and diagnose FH and provide the early intervention and treatment.Methods Clinical data were collected from a family with hypercholesterolemia treated in our hospital.Genetic sequencing analysis was conducted on the family members.Results Seven family members,aged between 8 and 59 years,were identified with increased levels of cholesterol and LDL-C.IndividualⅡ5 suffered coronary artery stenosis and had coronary stent implantation due to repeated angina pectoris.Genetic testing identified a heterozygous mutation at the LDLR gene Exon 13 c.1879 G>A(p.A627T)in all affected members.The diagnosis of FH was confirmed.Conclusions The onset of FH is insidious.There are no obvious clinical symptoms in the early stage,so that it is easily missed.Genetic testing technology for genetic screening of FH patients and their relatives not only helps early diagnosis,but also provides personalized treatment based on genotype.It is especially important for preventive treatment of pediatric patients.

关 键 词：家族性高胆固醇血症 基因检测 LDLR 

分 类 号：R589.2[医药卫生—内分泌]