Clinical and Angiographic Features of Patients with Moyamoya Disease and the p.R4810K Heterozygous Variant.
Clinical and Angiographic Features of Patients with Moyamoya Disease and the p.R4810K Heterozygous Variant.
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DOI：
10.1016/j.wneu.2015.12.093
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发表时间：
2016-06
影响因子：
2
通讯作者：
Qian Zhang;Dong Zhang;Rong Wang;Yaping Liu;Yan Zhang;Shuo Wang;Ji-zong Zhao
中科院分区：
文献类型：
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作者：
Qian Zhang;Dong Zhang;Rong Wang;Yaping Liu;Yan Zhang;Shuo Wang;Ji-zong Zhao
目的探讨烟雾病（MMD）和p.R4810K杂合变异患者的临床和血管造影特征，并提出一种评价疾病严重程度的血管造影分级系统。方法回顾性分析北京天坛医院收治的87例烟雾病及p.R4810K变异患者。分析临床特征、脑卒中亚型及血管造影特征。结果诊断时中位年龄25岁（范围3 ~ 59岁）。男女比例为1.2:1。家族性烟雾病发生率为14.9%。诊断时的主要症状为缺血、出血或其他，分别为67例、16例和4例。确定与缺血性卒中或脑卒中相关的血管造影特征，包括铃木分级、颈外动脉侧支、脑膜侧支和Mugikura分级。二元logistic回归模型显示，铃木分级（P= 0.008）和脑后动脉分级（P= 0.029）与缺血性脑卒中（142个半球）有显著相关性。开发了一种改良的铃木-木仓分级系统。基于Suzuki评分、Mugikura评分和改良Suzuki-Mugikura评分系统预测缺血性卒中的受试者工作特征曲线下面积分别为0.736、0.69和0.741。此外，改良的Suzuki-Mugikura分级与后循环梗死和梗死区域数量显著相关。结论中国烟雾人群p.R4810K变异的临床和血管造影特征与日本烟雾人群相似；它们可能是一种独特的脑血管疾病实体，代表一个单独的亚群。改良的Suzuki-Mugikura分级系统在预测中风和评估疾病严重程度方面有价值。
ObjectiveTo elucidate the clinical and angiographic features in patients with moyamoya disease (MMD) and the p.R4810K heterozygous variant and present an angiographic grading system to evaluate disease severity.MethodsWe retrospectively reviewed 87 patients with MMD and the p.R4810K variant treated at Beijing Tiantan Hospital. Clinical features, stroke subtype, and angiographic characteristics were analyzed.ResultsThe median age at diagnosis was 25 years (range, 3–59). The ratio of women to men was 1.2:1. The familial occurrence of MMD was 14.9%. The primary symptom at diagnosis was ischemia, hemorrhage, or other in 67, 16, and 4 patients, respectively. Angiographic features correlating with ischemic stroke or stroke, including Suzuki grade, external carotid artery collaterals, leptomeningeal collaterals, and Mugikura grade, were identified. A binary logistic regression model demonstrated a significant correlation of Suzuki grade (P= 0.008) and posterior cerebral artery grade (P= 0.029) with ischemic stroke (142 hemispheres). A modified Suzuki-Mugikura grading system was developed. The areas under the receiver operating characteristic curves used to predict ischemic stroke based on the Suzuki grading, Mugikura grading, and modified Suzuki-Mugikura grading systems were 0.736, 0.69, and 0.741, respectively. Furthermore, the modified Suzuki-Mugikura grades were significantly correlated with infarction in posterior circulation and the number of infarcted regions.ConclusionsThe clinical and angiographic features of a Chinese MMD population with the p.R4810K variant were similar to those of a Japanese MMD population; they might be a distinct cerebrovascular disease entity and represent a separate subgroup. A modified Suzuki-Mugikura grading system was valuable for predicting stroke and evaluating disease severity.