烟雾病的遗传学和病理生理学机制

Genetics and pathophysiological mechanisms of moyamoya disease

烟雾病（moyamoya disease,MMD）是一种以双侧颈内动脉末端和（或）大脑前、中动脉起始段狭窄或闭塞,颅底小血管代偿增生形成异常血管网为特征的一种慢性进展性脑血管病,其病因和发病机制尚未完全阐明.目前的研究推测,MMD可能为多基因遗传性疾病,炎症、免疫反应、细胞因子分泌异常、内皮祖细胞改变以及一氧化氮水平的变化与MMD的发生和发展有关.文章对MMD的遗传学和病理生理学机制的研究进展进行了综述.

Moyamoya disease （MMD） is a chronic and progressive cerebrovascular disease which is characterized by the bilateral internal carotid artery ends and （or） stenosis or occlusion of anterior cerebral artery and middle cerebral artery initial segments,compensatory proliferation of small blood vessels in the skull base and formation of abnormal vascular network.Its etiology and pathogenesis remains unclear.The present studies speculate that MMD may be a polygenic disease,inflammation,immune response,abnormal cytokine secretion,endothelial progenitor cell change and nitric oxide level change are associated with the occurrence and development of MMD.This article reviews the advances in research on the genetics and pathophysiological mechanism of MMD.