Houkin Kiyohiro, Ito Masaki, Sugiyama Taku, Shichinohe Hideo, Nakayama Naoki, Kazumata Ken, Kuroda Satoshi
Department of Neurosurgery, Hokkaido University Graduate School of Medicine, Sapporo, Hokkaido, Japan.
Neurol Med Chir (Tokyo). 2012;52(5):267-77. doi: 10.2176/nmc.52.267.
Research on moyamoya disease has progressed remarkably in the past several decades. Indeed, many new facts concerning the epidemiology of the disease have been revealed and surgical treatments have been drastically improved. However, despite extensive research, the mechanism of moyamoya disease is still unknown. Consequently, the cardinal treatment of this disease has not yet been developed. For further clarification of its etiology, innovative studies are therefore indispensable. The aim of this paper is to review research on the pathogenesis of moyamoya disease to identify milestones in the direction of its true solution. Many hypotheses of the pathogenesis of moyamoya disease have been proposed in the past half century, including infection (viral and bacterial), autoimmune disorders, proteins abnormality, and gene abnormality. Some of these are now considered to be historical achievements. Others, however, can be still subjected to contemporary research. Currently, several genetic abnormalities are considered to offer the most probable hypothesis. In addition, interesting papers have been presented on the role of the endothelial progenitor cell on the pathogenesis of moyamoya disease. Intuitively, however, it appears that a single theory cannot always explain the pathogenesis of this disease adequately. In other words, the complex mechanism of several factors may comprehensively explain the formation of moyamoya disease. The "double hit hypothesis" is probably the best explanation for the complicated pathology and epidemiology of this disease.
在过去几十年里，对烟雾病的研究取得了显著进展。的确，有关该疾病流行病学的许多新事实已被揭示，外科治疗也有了大幅改进。然而，尽管进行了广泛研究，烟雾病的发病机制仍然不明。因此，这种疾病的主要治疗方法尚未开发出来。为了进一步阐明其病因，创新研究因此必不可少。本文的目的是回顾烟雾病发病机制的研究，以确定朝着真正解决该问题方向的里程碑。在过去半个世纪里，已经提出了许多关于烟雾病发病机制的假说，包括感染（病毒和细菌）、自身免疫性疾病、蛋白质异常和基因异常。其中一些现在被认为是历史性成就。然而，其他一些假说仍可进行当代研究。目前，几种基因异常被认为提供了最有可能的假说。此外，也有关于内皮祖细胞在烟雾病发病机制中作用的有趣论文发表。然而，直观地看，似乎单一理论并不能总是充分解释这种疾病的发病机制。换句话说，几个因素的复杂机制可能综合解释烟雾病的形成。“双重打击假说”可能是对这种疾病复杂病理和流行病学的最佳解释。
