烟雾病基础和临床研究面临的问题与挑战 Challenges in Basic and Clinical Research of Moyamoya Disease

烟雾病是一种病因不明的慢性进展性脑血管疾病，高发于东亚人群的儿童和青壮年。近20年来，烟雾病的基础和临床研究飞速发展，取得了以易感基因研究为代表的一系列突破性进展。然而，在取得进步的同时也面临着诸多问题与挑战：基因检测是否必要？儿童和成人烟雾病的差异在哪里？无症状患者是真的无症状吗？烟雾病和烟雾综合征是否能明确区分？出血型烟雾病患者能否从手术中获益?一系列问题依旧给临床上带来困惑。未来研究者需要通过开展一系列高质量的基础和临床研究来驱散烟雾病诊疗中的“迷雾”。 Abstract: Moyamoya disease is a chronic progressive cerebrovascular disease of unknown etiology, which is most prevalent in children and young adults in East Asia. Over the past two decades, there have been rapid advancements in basic and clinical research on Moyamoya disease, leading to groundbreaking developments, particularly in susceptible gene studies. However, while progress has been made, there are still many problems and challenges. Is genetic testing necessary? What are the differences between Moyamoya disease in children and adults? Are asymptomatic patients truly asymptomatic? Can Moyamoya disease be clearly distinguished from Moyamoya syndrome? Can patients with hemorrhagic Moyamoya disease benefit from surgery? A series of questions continue to perplex clinicians in the field. In the future, researchers need to conduct high-quality basic and clinical research to dispel the “fog” surrounding the diagnosis and treatment of Moyamoya disease.