146例中国GNE肌病患者的临床、基因和肌肉病理特点分析  

Clinical,Genetic and Muscle Pathological Characteristics of GNE Myopathy in 146 Chinese Population

作　　者：王琴 曾雅清 宋志彬[1] 郭艺华[1] 郑卉 WANG Qin;ZENG Ya-qin;SONG Zhi-bin;GUO Yi-hua;ZHENG Hui(Department of Neurology,Xiaolan People’s Hospital of Zhongshan(The Fifth People’s Hospital of Zhongshan),Zhongshan 528415,China;Department of Neurology,Nanfang Hospital,Southern Medical University,Guangzhou 510000,China)

机构地区：[1]中山市小榄人民医院(中山市第五人民医院)神经内科,中山528415 [2]南方医科大学附属南方医院神经内科,广州510000

出　　处：《中国临床神经科学》2024年第6期679-687,共9页Chinese Journal of Clinical Neurosciences

摘　　要：目的回顾性分析既往报告的中国GNE肌病的临床表现、基因分型和肌肉病理特点,进一步探讨不同基因突变类型GNE患者的临床表现。方法通过文献检索中国146例GNE肌病病例,回顾性分析其临床、基因分型和肌肉病理特点。结果146例GNE肌病患者,年龄17~66岁,发病年龄在20~30岁(72例,49.31%),其中男51例(34.93%)、女95例(65.07%)。肌肉病理:肌纤维内出现镶边空泡患者141例(96.57%)。基因检测:p.D207V突变基因组[33例(22.60%)],p.D176V突变基因组[30例(20.55%)],p.L508S突变基因组[16例(10.96%)],其他基因类型组[67例(45.89%)]。4组间在性别、发病年龄、上肢受累、躯干肌受累以及肌酸激酶(CK)是否升高进行比较,差异均有显著性(均P<0.05)。4组间股四头肌受累比较差异无显著性(χ^(2)=3.582,P=0.310)。发病年龄,p.D207V突变组与p.D176V突变组比较差异无显著性(P=0.652),其余不同突变型组间比较差异均有显著性(P<0.05)。p.L508S突变组均为女性(16例,100%),发病年龄(21.38±1.63)岁明显早于其他基因突变型,上肢受累率(100%),但股四头肌及躯干肌受累率低(分别为0;6.25%;31.25%),CK升高率最低(68.75%)。结论中国GNE肌病的最常见3大基因突变类型为p.D207V、p.D176V、p.L508S,女性多见,发病年龄在20~30岁,临床上经常出现股四头肌保留现象,肌肉病理示肌纤维内出现镶边空泡。其中p.L508S突变患者的发病年龄更早,均为女性,股四头肌及颈、腰肌受累率低,上肢及小腿前后群肌肉受累率高。Aim To retrospectively analyze the clinical manifestations,genotyping and muscle pathological features of GNE myopathy reported in China,and explore the clinical manifestations of GNE patients with different gene mutation types.Methods 146 cases of GNE myopathy in China were reviewed retrospectively to analyze the clinical,genotyping and pathological features of GNE myopathy.Results 146 patients with GNE myopathy,aged 17-66 years,the onset age was mostly concentrated in 20-30 years old(72 cases,49.31%),including 51 males(34.93%)and 95 females(65.07%).There were 141 patients(96.57%)with rimmed vacuol in muscle fibers.Among 146 Chinese patients with GNE myopathy,there were 33 cases(22.60%)with p.D207V mutated gene,30 cases(20.55%)with p.D176V mutated gene,16 cases(10.96%)with p.L508S mutated gene,and 67 cases(45.89%)with other gene types.There were significant differences in gender,age of onset,upper limb involvement,trunk muscle involved and creatine kinase elevation among the four groups(P<0.05).There was no significant difference in quadriceps involvement among the four groups(χ^(2)=3.582,P=0.310).There was no difference between p.D207V mutation and p.D176V mutation in the age of onset(27.79±7.04 vs.30.27±9.71,F=-4.811,P=0.652),and there were significant differences among the other groups(P<0.05).The GNE patients with p.L508S mutation were all female patients(16 cases,100%),and the age of onset was significantly earlier than that of other gene mutations[(21.38±1.63)years].The upper limb involvement rate was the highest(100%),but the quadriceps and trunk muscles had a low rate of involvement(0;6.25%;31.25%)and the lowest rate of creatine kinase elevation(68.75%).Conclusion The three most common types of GNE myopathy in Chinese population are p.D207V,p.D176V and p.L508S mutation types.The patients with p.L508S mutation types,which are more common in females,and the age of onset is mostly concentrated in 20-30 years old.Clinically,there are often quadriceps retention phenomenon and rimmed vacuoles in pathologic

关 键 词：GNE肌病 中国人群 基因分型 镶边空泡远端肌病 遗传性包涵体肌病 包涵体肌病2型 Nonaka肌病 

分 类 号：R746[医药卫生—神经病学与精神病学]