单基因遗传性脑小血管病诊断与鉴别诊断

Diagnosis and differential diagnosis of single gene genetic cerebral small vascular disease

脑小血管病(CSVD)是指颅内小动脉、微动脉、小静脉和毛细血管病变所致卒中事件发生的一组疾病,其中由动脉硬化、感染及免疫因素所致的CSVD较为常见,而遗传因素所致的CSVD并不常见且有其独特的表现和特点。文章围绕几类单基因遗传性CSVD,按照血管平滑肌细胞病、血管间质性疾病、血管内皮细胞病及血管代谢性疾病分类,总结其疾病特点、诊断要点、鉴别诊断及最新诊疗方向,以期提高临床医生对于单基因遗传性CSVD的认识,提高诊疗水平。

Cerebral small vascular disease(CSVD)refers to a group of diseases caused by intracranial arterioles,arterioles,venules and capillaries which lead to storke events.The common reason that related to CSVD are teriosclerosis,infection and immune factors,while CSVD caused by genetic factors are rarely and have their unique manifestations and characteristics.According to the classification of vascular smooth muscle cell disease,vascular interstitial disease,vascular endothelial cell disease and vascular metabolic disease,this paper summarizes the characteristics,diagnosis points,differential diagnosis and the latest diagnosis and treatment direction of several kinds of single gene hereditary CSVD,in order to improve clinicians’understanding of single gene hereditary cerebral small vessels and improve the level of diagnosis and treatment.