中国遗传性肌病伴早发呼吸衰竭一例并文献复习  

Hereditary myopathy with early respiratory failure in China:one case report and literatures review

作　　者：李颖[1] 漆学良[2] 张巍[3] 冯立群[1] 刘广志 袁云[3] LI Ying;QI Xue‑liang;ZHANG Wei;FENG Li‑qun;LIU Guang‑zhi;YUAN Yun(Department of Neurology,Beijing Anzhen Hospital,Capital Medical University,Beijing 100029,China;Department of Neurology,The Second Affiliated Hospital of Nanchang University,Nanchang 330006,China;Department of Neurology,Peking University First Hospital,Beijing 100034,China)

机构地区：[1]首都医科大学附属北京安贞医院神经内科,100029 [2]南昌大学第二附属医院神经内科,330006 [3]北京大学第一医院神经内科,100034

出　　处：《中国现代神经疾病杂志》2023年第9期813-820,共8页Chinese Journal of Contemporary Neurology and Neurosurgery

摘　　要：目的回顾分析1例遗传性肌病伴早发呼吸衰竭患者症状与体征、组织病理学及基因型特征。方法与结果患者为26岁女性,以双上肢近远端、双下肢远端肌无力伴肌肉疼痛症状发病,伴典型日间及夜间呼吸衰竭症状;血清肌酸激酶(258 U/L)、肌酸激酶同工酶(17.80 ng/ml)水平升高;肌电图呈肌源性损害;大腿肌肉MRI显示半腱肌受累;骨骼肌组织活检呈“项链”样排列于肌膜下的胞质体形成;基因检测存在TTN基因c.90211T>C(p.Cys30071Arg)突变,确诊为遗传性肌病伴早发呼吸衰竭。结论对于存在不明原因呼吸衰竭,尤其伴肌无力症状的患者,需考虑遗传性肌病伴早发呼吸衰竭可能;通过骨骼肌组织活检和基因检测确诊。Objective To retrospectively analyze the clinical sign and symptom,pathological and genetic characteristics of a case of hereditary myopathy with early respiratory failure(HMERF).Methods and Results A 26‑year‑old female patient presented with muscle weakness(including the proximal and distal arms and lower legs)and myalgia,typical daytime and nighttime respiratory failure symptoms.The serum creatine kinase(CK,258 U/L)and creatine kinase isoenzyme(CK‑MB,17.80 ng/ml)levels were increased.The EMG showed myogenic changes,and thigh muscle MRI showed selective semitendinous muscle involvement.The skeletal muscle biopsy showed the formation of cytoplasm arranged in the submuscular membrane like a"necklace".Gene test revealed a mutation of TTN gene with c.90211T>C(p.Cys30071Arg).The final diagnosis was HMERF.Conclusions The possibility of HMERF should be considered in patients with unexplained respiratory failure,especially with muscle weakness.Skeletal muscle biopsy and genetic test can make a definitive diagnosis.

关 键 词：肌疾病 遗传性疾病 先天性 呼吸功能不全 肌联蛋白 病理学 中国 

分 类 号：R56[医药卫生—呼吸系统] R596[医药卫生—内科学]