81例强直性肌病的临床、病理和分子生物学研究  

A clinical, pathological and molecular biology features of 81 patients with myotonic myopathies

作　　者：沈宏锐[1] 靳陶然[2] 孟雁欣 赵哲[1] 邴琪[1] 胡静[1] Shen Hongrui;Jin Taoran;Meng Yanxin;Zhao Zhe;Bing Qi;Hu Jing(Department of Neuromuscular Disease,Third Hospital of Hebei Medical University,Shijiazhuang 050051,China;Department of Cadre Ward,Third Hospital of Hebei Medical University,Shijiazhuang 050051,China;Prenatal Diagnosis Center,Fourth Hospital of Shjiazhuang,Shijiazhuang 050051,China)

机构地区：[1]河北医科大学第三医院神经肌肉病科,石家庄050051 [2]河北医科大学第三医院干部病房,石家庄050051 [3]石家庄市第四医院产前诊断中心,050011

出　　处：《中华神经医学杂志》2019年第1期61-65,共5页Chinese Journal of Neuromedicine

摘　　要：目的 探讨强直性肌病的临床、病理和分子生物学特点,为提高临床诊治水平提供依据。 方法 回顾性分析河北医科大学第三医院神经肌肉病科自2005年6月至2018年6月收治的81例强直性肌病患者的临床、骨骼肌活检病理特点,以及其中55例患者经分子生物学方法明确的致病基因。 结果 (1)81例患者中强直性肌营养不良(DM)47例,非萎缩性肌强直(NDM)34例。(2)DM患者切片病理染色中多见特征性的中心核、核聚集和肌浆块,伴纤维变性、坏死;NDM缺乏特征性病理改变。(3)基因分析患者中DM1型患者32例,DM2型患者3例;先天性肌强直(MC)9例,先天性副肌强直(PC)5例,6例未能明确分型。共发现7个CLCN-1新发致病突变位点和3个SCN4A新发致病突变位点。 结论 (1)强直性肌病是一组复杂的单基因遗传病,肌强直为共同特征性表现,可出现多系统受累;(2)骨骼肌活检病理分析是诊断与鉴别诊断的重要方法,基因分析是其诊断和分型诊断的金标准。Objective To study the clinical, pathological and molecular biology features of myotonic myopathies. Methods Eighty-one patients with myotonic myopathies, admitted to our hospital from June 2005 to June 2018, were chosen in our study. All patients accepted clinical and skeletal muscle pathology examination, and genetic features of 55 patients were analyzed by molecular biological method. Results (1) All patients suffered from typical myotonia, and electromyography shows typical myotonic discharges;47 patients exhibited myotonic dystrophy (DM) and 34 patients exhibited non-myotonic dystrophy (NDM). (2) In muscle biopsy of DM, typical central nuclei, pyknotic clumps and sarcoplasmic masses were observed;and characteristic pathological changes were not observed in muscle biopsy of NDM. (3) Totally, 32 DM1 patients, 3 DM2 patients, 9 MC patients and 5 paramyotonia congenita patients were confirmed by molecular biology technology;7 independent mutations in the CLCN1 gene and 3 independent mutations in the SCN4A gene were novel mutations. Conclusions (1) Myotonic myopathies are some single gene inheritance diseases with multisystem disorders and their main symptoms include myotonia. (2) Skeletal muscle biopsy is a trustworthy method for definite diagnosis of myotonic myopathies;gene analysis is the gold standard for diagnosis and classification of myotonic myopathies.

关 键 词：肌强直 骨骼肌活检 病理学 基因分析 

分 类 号：R746[医药卫生—神经病学与精神病学]