强直性肌营养不良18例基因检测及骨骼肌活检特征分析  

Gene detection and skeletal muscle biopsy characteristics of 18 patients with myotonic dystrophy

作　　者：邢敏 周勇[1] 冯俊强[1] XING Min;ZHOU Yong;FENG Jun-qiang(Department of Neurology,Daqing Longnan Hospital(the Fifth Affiliated Hospital of Qiqihar Medical College),Daqing Heilongjiang 163453,China)

机构地区：[1]大庆龙南医院(齐齐哈尔医学院第五附属医院)神经内科,黑龙江大庆163453

出　　处：《临床和实验医学杂志》2024年第24期2586-2589,共4页Journal of Clinical and Experimental Medicine

基　　金：黑龙江省卫健委科研课题(编号:2020002)。

摘　　要：目的研究18例强直性肌营养不良(DM)基因检测及骨骼肌活检特征。方法回顾性选取2022年1月至2024年1月入大庆龙南医院治疗的18例DM患者为研究对象,分析其临床资料、基因检测及骨骼肌活检结果以辅助诊断。结果(CTG)n/(CCTG)n分子检测显示,18例DM患者中强直性肌营养不良Ⅱ型(DM2)2例,强直性肌营养不良Ⅰ型(DM1)16例。18例DM患者均显示典型肌强直电位,10例伴肌病电位。2例DM2患者四肢近端肌合并心脏受累,16例DM1患者四肢远端肌存在肌无力、肌萎缩及肌强直状况,且合并生殖、心脏等系统受累。骨骼肌活检显示,18例DM患者典型核聚集、中心核、核内移与肌浆块;16例DM1患者ATP酶染色显示Ⅱ型肌纤维出现肌源性群化/优势,典型Ⅰ型肌纤维出现萎缩状况,少数患者以部分肌纤维坏死及变性为主要表现,还可观察到再生肌纤维,氧化酶活性局灶显著下降,结缔组织增生处于中度或者重度,可观察到轴空样、虫噬变化;2例DM2患者ATP酶染色显示典型Ⅱ型肌纤维出现萎缩状况,Ⅰ型肌纤维优势,合并轻度肌纤维坏死及变性,结缔组织增生处于轻度。结论DM诊断分型中分子生物学检测的应用效果显著;DM1患者相较于DM2患者的临床表型更重;DM患者的典型骨骼肌病理变化以核内移、中心核及核聚集为主;DM1患者与DM2患者在病理特征方面的区分重点在于肌纤维群化分布及核固缩差异;早期阶段DM2筛查及预测中活检骨骼肌病理具有辅助作用。Objective To study the characteristics of gene detection and skeletal muscle biopsy in 18 cases of myotonic dystrophy(DM).Methods A total of 18 DM patients admitted to Daqing Longnan Hospital from January 2022 to January 2024 were retrospectively selected as the study objects,and their clinical data,genetic detection and skeletal muscle biopsy results were analyzed to assist diagnosis.Results(CTG)n/(CCTG)n molecular detection showed that there were 2 cases of myotonic dystrophy type Ⅱ(DM2)and 16 cases of myotonic dystrophy type I(DM1)in 18 DM patients.All of the 18 DM patients showed typical myotonic potential,and 10 showed myopathic potential.There were 2 cases of DM2 patients with proximal limb muscle complicated with heart involvement,and 16 cases of DM1 patients with distal limb muscle weakness,muscle atrophy and muscle rigidity,and reproductive,cardiac and other system involvement.Skeletal muscle biopsy showed typical nuclear aggregation,central nucleus,inucleation and sarcoplasmic mass in 18 DM patients.In 16 DM1 patients,ATPASE staining showed myogenic clustering/dominance of type Ⅱ muscle fibers and atrophy of typical type Ⅰ muscle fibers.In a few patients,necrosis and degeneration of some muscle fibers were the main manifestations,and regenerated muscle fibers were also observed,with a significant decrease of oxidase activity in focal areas,moderate or severe connective tissue hyperplasia,and changes in axonoidosis and worm eating.The ATPASE staining of DM2 patients showed atrophy of typical type Ⅱ muscle fibers,predominance of type I muscle fibers,combined with mild muscle fiber necrosis and degeneration,and mild connective tissue hyperplasia.Conclusion The application of molecular biological detection in DM diagnostic classification is effective.The clinical phenotype of DM1 patients is heavier than that of DM2 patients.The typical pathological changes of skeletal muscle in DM patients are mainly nuclear inward migration,central nucleus and nuclear aggregation.The difference of pathological fea

关 键 词：强直性肌营养不良 基因检测 骨骼肌活检 分子生物学 病理分析 

分 类 号：R58[医药卫生—内分泌]