Abstract：
Moyamoya disease (MMD) is a cerebrovascular disorder that is predominantly observed in women of East Asian descent, and is characterized by progressive stenosis of the internal carotid artery, beginning in early childhood, and a distinctive network of collateral vessels known as \"moyamoya vessels\" in the basal ganglia. Additionally, a prevalent genetic variant found in most MMD cases is the p.R4810K polymorphism of RNF213 on chromosome 17q25.3. Recent studies have revealed that RNF213 mutations are associated not only with MMD, but also with other systemic vascular disorders, including intracranial atherosclerosis and systemic vascular abnormalities such as pulmonary artery stenosis and coronary artery diseases. Therefore, the concept of \"RNF213-related vasculopathy\" has been proposed. This review focuses on polymorphisms in the RNF213 gene and describes a wide range of clinical and genetic phenotypes associated with RNF213-related vasculopathy. The RNF213 gene has been suggested to play an important role in the pathogenesis of vascular diseases and developing new therapies. Therefore, further research and knowledge sharing through collaboration between clinicians and researchers are required.
摘要：
烟雾病（MMD）是一种脑血管疾病，主要在东亚血统的女性中观察到，表现为颈内动脉进行性狭窄,从儿童早期开始，以及基底神经节中称为“烟雾状血管”的独特侧支血管网络。此外,在大多数MMD病例中发现的普遍遗传变异是染色体17q25.3上RNF213的p.R4810K多态性。最近的研究表明，RNF213突变不仅与MMD有关，还有其他系统性血管疾病，包括颅内动脉粥样硬化和全身血管异常，如肺动脉狭窄和冠状动脉疾病。因此,已经提出了“RNF213相关血管病变”的概念。这篇综述着重于RNF213基因的多态性，并描述了与RNF213相关的血管病变相关的各种临床和遗传表型。已表明RNF213基因在血管疾病的发病机理和开发新的疗法中起重要作用。因此,需要通过临床医生和研究人员之间的合作进行进一步的研究和知识共享.
