烟雾病血脑屏障损伤的分子机制与临床研究 进展

Mechanisms and Clinical Research Progress of Blood-Brain Barrier Injury in Moyamoya Disease

摘要: 目的：总结烟雾病血脑屏障损伤的临床证据、分子机制及临床转化价值。方法：围绕烟雾病中血脑屏障功能异常相关研究，从影像学评估、生物标志物、遗传易感因素、神经血管单元功能障碍及炎症免疫调控等方面进行归纳分析。结果：现有研究显示，烟雾病患者存在不同程度的血脑屏障损伤，并与疾病分型、出血风险及围手术期并发症密切相关。动态对比增强磁共振成像可评估血脑屏障通透性变化，MMP-9、BK/B1R及VEGF等生物标志物具有潜在评估价值。机制研究提示，RNF213相关病理过程、神经血管单元功能障碍、细胞外基质重塑及炎症免疫异常可能共同参与血脑屏障稳态破坏。结论：血脑屏障损伤是烟雾病的重要病理特征之一，进一步阐明其调控机制有助于推动烟雾病精准评估及靶向干预策略研究。

Abstract: Objective: To summarize the clinical evidence, molecular mechanisms, and potential translational value of blood-brain barrier (BBB) injury in moyamoya disease (MMD). Methods: Relevant studies on BBB dysfunction in MMD were reviewed, focusing on imaging findings, circulating biomarkers, genetic susceptibility, neurovascular unit dysfunction, and inflammatory responses. Results: Increasing evidence indicates that BBB injury is widely present in patients with MMD and is associated with disease phenotype, hemorrhagic risk, and perioperative complications. Imaging studies have demonstrated increased vascular permeability, while biomarkers such as matrix metalloproteinase-9 (MMP-9), bradykinin/bradykinin B1 receptor signaling molecules, and vascular endothelial growth factor have shown potential value in evaluating BBB dysfunction. Current studies suggest that RNF213-related abnormalities, neurovascular unit dysfunction, extracellular matrix remodeling, and inflammatory responses may collectively contribute to BBB disruption in MMD. Conclusion: BBB injury is an important pathological feature of MMD and may participate in disease progression. Further studies are needed to clarify its regulatory mechanisms and promote the development of novel diagnostic and therapeutic strategies.