Abstract：
Systemic vasculopathy has occasionally been reported in cases of moyamoya disease (MMD). Since the pathological relationship between moyamoya vasculopathy (MMV) and moyamoya-related systemic vasculopathy (MMRSV) remains unclear, it was examined herein by a review of histopathologic studies in consideration of clinicopathological and genetic viewpoints. Although luminal stenosis was a common finding in MMV and MMRSV, histopathologic findings of vascular remodeling markedly differed. MMV showed intimal hyperplasia, marked medial atrophy, and redundant tortuosity of the internal elastic lamina, with outer diameter narrowing called negative remodeling. MMRSV showed hyperplasia, mainly in the intima and sometimes in the media, with disrupted stratification of the internal elastic lamina. Systemic vasculopathy has also been observed in patients with non-MMD carrying the RNF213 (ring finger protein 213) mutation, leading to the concept of RNF213 vasculopathy. RNF213 vasculopathy in patients with non-MMD was histopathologically similar to MMRSV. Cases of MMRSV have sometimes been diagnosed with fibromuscular dysplasia. Fibromuscular dysplasia is similar to MMD not only in the histopathologic findings of MMRSV but also from clinicopathological and genetic viewpoints. The significant histopathologic difference between MMV and MMRSV may be attributed to a difference in the original vascular wall structure and its resistance to pathological stress between the intracranial and systemic arteries. To understand the pathogeneses of MMD and MMRSV, a broader perspective that includes RNF213 vasculopathy and fibromuscular dysplasia as well as an examination of the 2- or multiple-hit theory consisting of genetic factors, vascular structural conditions, and vascular environmental factors, such as blood immune cells and hemodynamics, are needed.
摘要：
在烟雾病（MMD）的病例中偶尔有系统性血管病变的报道。由于烟雾血管病变（MMV）和烟雾相关性全身性血管病变（MMRSV）之间的病理关系尚不清楚，本文通过回顾组织病理学研究并考虑临床病理学和遗传学观点对其进行了检查.尽管管腔狭窄是MMV和MMRSV的常见发现，血管重塑的组织病理学发现明显不同。MMV显示内膜增生,明显的内侧萎缩,和内部弹性薄层的多余曲折，外径变窄称为负重塑。MMRSV显示增生，主要在内膜，有时在媒体，内部弹性层的分层中断。在携带RNF213（无名指蛋白213）突变的非MMD患者中也观察到系统性血管病变，导致RNF213血管病变的概念。非MMD患者的RNF213血管病变在组织病理学上与MMRSV相似。MMRSV的病例有时被诊断为纤维肌肉发育不良。纤维肌性发育不良与MMD相似，不仅在MMRSV的组织病理学发现上，而且从临床病理和遗传学角度来看也是如此。MMV和MMRSV之间的显着组织病理学差异可能归因于原始血管壁结构的差异及其对颅内和全身动脉之间病理应激的抵抗力。了解MMD和MMRSV的发病机制,一个更广泛的视角，包括RNF213血管病变和纤维肌肉发育不良，以及对由遗传因素组成的2-或多次命中理论的检查，血管结构条件，和血管环境因素，比如血液免疫细胞和血液动力学，是需要的。
