目的 分析出血型烟雾病的血肿特点及发病特征,并报道一个汉族烟雾病家系.方法 回顾性分析2010年6月1日至2017年6月1日期间,在华中科技大学同济医学院附属同济医院诊治的110例出血型烟雾病患者.收集其一般临床资料、出血部位、形态特点及再出血情况,探究这一特殊病因导致的脑出血的特点.同时,报道一个伴环指蛋白(ring finger protein,RNF)213基因突变的汉族烟雾病家系的发病情况.结果 110例出血型烟雾病患者中,男性50例,女性60例,男女比例为1:1.2.平均年龄为(38.65 ± 7.85)岁.主要症状为头痛、意识障碍,部分患者有偏瘫.出血部位在基底节区的有82例(74.5%),脑叶出血有33例(30.0%),81例(73.6%)出血破入脑室/蛛网膜下腔,有67例(60.9%)血肿形态不规则,15例(13.6%)合并有动脉瘤.发生反复出血的有21例(19.1%),其中6例属于急性期再发出血,另外15例在恢复期发生再出血.单因素分析发现:年龄、血肿形态不规则与反复出血的发生有关(t=2.149,P=0.034;χ2=4.379,P=0.047).在该烟雾病家系中,4代共7人发病,基因检测发现RNF213 p.R4810K(rs112735431:G>A)突变,其发病形式以脑室出血及脑梗死为主,其中3人发生猝死,发病年龄早,症状呈反复发作特点,搭桥手术后发作频率降低.结论 出血型烟雾病具有典型的血肿特点,再出血风险较高,年龄大、血肿形态不规则是再出血的高危因素.识别特殊的血肿特点有助于烟雾病的早期诊治.另在一家族性烟雾病中发现了 RNF213 p.R4810K突变,丰富了中国烟雾病家系数据.%Objective To analyze hematoma characteristics of hemorrhagic moyamoya disease,and report a familial moy-amoya disease pedigree.Methods In total,110 patients with hemorrhagic moyamoya disease were retrospectively re-searched.The general clinical data and morphological characteristics of hematoma were collected.The bleeding characteristics of cerebral hemorrhage caused by this special cause were explored.Meanwhile,morbidity of a Han moyamoya family with a muta-tion of the ring finger protein(RNF)213 was reported.Results There were 50 males and 60 females,with a ratio of 1:1.2,and the average age was(38.65 ± 7.85)years.The main symptoms were headache,consciousness and hemiplegia.There were 82 (74.5%)cases of hemorrhage in the basal ganglia,33(30.0%)cases with lobar hemorrhage and 81(73.6%)cases with hemor-rhages in the ventricular/subarachnoid space.Sixty-seven cases(60.9%)had the irregular hematoma,15 cases(13.6%)aneu-rysms.Recurrent bleeding occurred in 21 cases(19.1%),of which 6 patients had re-bleeding in acute stage,and the other 15 pa-tients re-bleed in the recovery period.Univariate analysis showed that age and irregular hematoma were related to repeated hem-orrhage(t=2.149,P=0.034;χ2=4.379,P=0.047).In addition,there were 7 patients in the familial moyamoya disease pedi-gree of four generations.Genetic testing found the RNF213 p.R4810K(rs112735431:G> A)mutation,the most common type included ventricular hemorrhage and cerebral infarction;among them,sudden death happened in 3 patients.Symptoms onset in early age and the disease was recurrent frequently.Bypass revascularization surgery reduced frequency of attacks.Conclusion Hemorrhagic moyamoya disease is characterized by typical hematoma and high risk of re-bleeding.Older age and irregular hema-toma were related to re-bleeding.Identifying the characteristics of hematoma could contribute to early diagnosis.At the same time,RNF213 p.R4810K mutation is a potential pathogenic factor in Han population of familial moyamoya disease.
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