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单基因遗传性脑血管病的分类和诊断

  

  1. 1.南昌大学第一附属医院 神经科,江西 南昌 330006;2.北京大学人民医院 神经内科,北京 100044
  • 出版日期:2018-03-05 发布日期:2018-03-19
  • 通讯作者: 通信作者:洪道俊,Email:hongdaojun@hotmail.com

Classification and diagnosis of singlegene hereditary cerebrovascular disease

  1. 1.Department of Neurology,  the First Hospital of Nanchang University,  Nanchang 330006, China;
    2. Department of Neorology,Peking University People's Hospital,Beijing 100044,China
  • Online:2018-03-05 Published:2018-03-19
  • Contact: Corresponding author: Hong Daojun, Email:hongdaojun@hotmail.com

摘要: 脑血管病是一种高发病率、高致残性、高死亡率的疾病,其最常见的相关危险因素包括老龄、高血压病、糖尿病、心房颤动、血脂代谢异常、不良生活习惯等。目前认为约5%~10%的脑血管病可归因于单基因遗传病,这类患者常表现为中青年起病的缺血性或出血性卒中,出现一列中枢神经系统受累症状,常伴有多系统损害特点。本文拟从脑血管病发病的病理生理机制角度对单基因遗传性脑血管病进行分类,并对其代表性病种进行综述。

关键词: 卒中, 基因, 显性, 脑血管循环

Abstract: Cerebrovascular disease is a disorder with high incidence, high disability and high mortality. The most common risk factors associated with cerebrovascular disease include aging, hypertension, diabetes, atrial fibrillation, dyslipidemia, bad living habits and so on. It is currently believed that about 5%10% of cerebrovascular diseases can be attributed to monogenic hereditary diseases. Such patients often show ischemic or hemorrhagic stroke with onset of middleaged and young age, often accompanied by multisystem involvements. In this paper, we classified the monogenic hereditary cerebrovascular diseases from the perspective of the pathophysiology, and then review the representative hereditary cerebrovascular diseases.

Key words: stroke, genes, dominant, cerebrovascular circulation