上海交通大学学报（医学版）

上海交通大学学报（医学版）

• 病例报告 • 上一篇    

单基因家族性高胆固醇血症样表型两家系报道

何津春1,2，周珊珊2，李燕平1，姚立琼1，苏 娜1，陈保锦1，李 琳1，何津祥3   

  1. 兰州大学 1.第一医院医学检验中心， 2.第一临床医学院研究生处， 3.第一医院放疗科， 兰州 730000
  • 出版日期:2015-02-28 发布日期:2015-02-27
  • 通讯作者: 何津祥, 电子信箱: hejx711@qq.com。
  • 作者简介:何津春（1963—）， 男， 主任检验师， 硕士生导师; 电子信箱: jinchunhe@163.com。
  • 基金资助:

    国家“十五”重大科技专项 (2002BA711A08-17) ；教育部科技基础平台建设（505015）；甘肃省自然科学研究基金 (1308RJZA218, 2011y0217)；国家留学基金委;横向课题基金（2012620111000212）

Report of two families of monogenic familial hypercholesterolemia like phenotype

HE Jin-chun1,2, ZHOU Shan-shan2, LI Yan-ping1, YAO Li-qiong1, SU Na1, CHEN Bao-jin1, LI Lin1, HE Jin-xiang3   

  1. 1.Department of Laboratory， the First Hospital of Lanzhou University， 2.Department of Postgraduate, the First Clinical College of Lanzhou University， 3.Department of Radiation， the First Hospital of Lanzhou University， Lanzhou 730000， China
  • Online:2015-02-28 Published:2015-02-27
  • Supported by:

    National Key Technology Research and Development Program of China during the “10th FiveYear” Plan，2002DA711A028-17； Science and Technology Infrastructure Platform of Ministry of Education， 505015；Natural Science Foundation of Gansu Province， 1308RJZA218, 2011y0217； China Scholarship Council; Horizontal Subject Foundation, 2012620111000212

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摘要：

目的 报道2个单基因家族性高胆固醇血症家系及系谱分析，加深对单基因家族性高胆固醇血症的认识。方法 分析2个单基因家族性高胆固醇血症家系、生化结果及临床资料。结果 2个家系共22位健在者，其中患者17例。纯合子患者发病较早,有典型的黄色瘤,血清总胆固醇和低密度脂蛋白胆固醇均明显升高，三酰甘油均正常；早期均有心肌缺血的心电图改变。结论 该病患者发病早且危害大，对患者应早期采取降脂治疗的干预。

关键词: 家族性高胆固醇血症, 家系, 表型

Abstract:

Objective To report 2 families of monogenic familial hypercholesterolemia and their pedigree analysis and to improve the understanding of familial hypercholesterolemia. Methods The pedigree, biochemical results, and clinical data of 2 families of monogenic familial hypercholesterolemia were analyzed. Results There were 17 patients among 22 surviving members of two families. The onset of homozygous patients was earlier. Typical xanthoma was found among them. Their serum total cholesterol and low density lipoprotein cholesterol significantly increased. Triglycerides were normal. Electrocardiogram changes caused by the myocardial ischemia was discovered in the early stage. Conclusion The onset of this disease is early and can cause serious damages. Patients should undergo the early lipid-lowering therapy.

Key words: familial hypercholesterolemia, family, phenotype