摘要
烟雾病是一种进行性脑血管病,具有种族易感性、家族聚集性特征。烟雾血管表现出内膜增厚,中膜变薄,内弹力板迂曲,伴有淋巴细胞浸润等特征性病理表现,其病因及发病机制尚未完全阐明,目前认为该病与内皮细胞、平滑肌细胞、细胞外基质的异常代谢和炎性反应相关。作者从遗传因素、机体内环境因素、免疫因素3个层面,阐述内皮细胞易感基因环指蛋白213、平滑肌细胞易感基因、细胞外基质代谢相关基因、血管生成相关因子以及免疫易感基因在烟雾病的发生、发展中所起的作用。
Moyamoya disease( MMD) is a progressive cerebrovascular disease with characteristics of ethnic susceptibility and familial aggregation. The pathological changes of stenosed vessels in MMD include intima thickening,tunica media thinning,irregular undulation of the internal elastic laminae and lymphocytic infiltration. The etiology and pathogenesis are not completely clarified. It is presently thought that this disease is related to endothelial cells,smooth muscle cells,abnormal metabolism of extracellular matrix and inflammatory responses. This review will discuss,from genetic,cellular environmental and immunological perspectives,the specific roles of several genes in the development of MMD,including endothelial cell susceptibility gene ring finger protein 213,smooth muscle cell susceptibility genes,extracellular matrix genes,angiogenesis factors and immune-related genes.
引文
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