17例中国人有镶边空泡远端肌病临床病理特点及预后随访  

Clinical and pathological features and prognosis of Chinese patients with distal myopathy with rimmed vacuoles：study of 17 cases

作　　者：陈琦[1] 焉传祝[1] 刘淑萍[1] 赵玉英[1] 李伟[1] 吴金玲[1] 李大年[1] 

机构地区：[1]山东大学齐鲁医院神经内科,济南250012

出　　处：《中华医学杂志》2008年第19期1313-1317,共5页National Medical Journal of China

基　　金：国家自然科学基金资助项目（30670744）

摘　　要：目的探讨17例中国人有镶边空泡远端肌病（DMRV）患者的临床病理特点和部分患者预后情况。方法对山东大学齐鲁医院神经内科1986至2007年间17例DMRV患者的临床和病理资料进行回顾性分析和总结并对其预后情况进行门诊或电话随访。结果17例患者中女12例，男5例，平均起病年龄23．1岁。下肢远端肌早期受累，股四头肌受累相对较轻，病情缓慢进展。肌肉病理改变主要为镶边空泡形成，肌纤维坏死和再生少见，电镜观察可见肌浆或肌核内管状细丝包涵体。有11例患者获得了其随访资料，其中10年以上2例，5～10年2例，1～5年5例，1年以内2例。随访结果显示尽管出现于成年早期的始发症状是下肢远端肌的萎缩和无力，但疾病晚期可见全身骨骼肌广泛严重受累，患者丧失行走和生活自理能力，生活质量差。结论中国人DMRV的临床和病理特点与日本报道的病例基本一致。病情缓慢进展，病后7～10年丧失独立行走能力。就日常生活而言，DMRV的预后是相当差的。Objective To clarify the clinical and pathological features and prognosis of Chinese patients with distal myopathy with rimmed vacuoles （DMRV）. Methods The clinical data of 17 Chinese DMRV patients with the courses of disease of 1 -21 years, 5 males and 12 females, aged 28. 9 （19 -41 ）, were collected. Biopsy of muscle specimens of 17 Chinese DMRV patients were summarized retrospectively. Muscle specimens were collected from the biceps brachii, tibialis anterior, gastrocnemius, or quadriceps femoris and underwent light microscopy. Eight muscle specimens underwent electron microscopy. 11 patients were followed up for 4 months to 15 years. Results The age of onset ranged from 5 to 40 years （ averaging 23 years）. Distal muscle weakness and atrophy of the lower extremities, especially anterior tibial muscle, was predominant in the early stage. Proximal and trunk muscles were involved in the advanced stage. Quadriceps femoris were slightly involved. The striking and characteristic pathological finding was the presence of rimmed vacuoles in atrophic muscle fibers with little evidence of necrotic or regenerative processes. Electron microscopy showed accumulation of myeloid structure and cytoplasmic or intranuclear tubofilamentous inclusion bodies. Mthough atrophy and weakness of the leg muscle appeared as initial symptoms, severe generalized skeletal muscle involvement with sparing of the facial, extraocular, bulbar, intercostals, and diaphragm muscles was recognized in the advanced stage. The patients became non-ambulant about 7 - 10 years after the onset of the disease. They lost the self-care ability and the quality of their life was rather low. Conclusion The clinical and pathological features of the Chinese DMRV patients are basically similar to those of the Japanese patients. With the disease progressing slowly, the patients become wheelchair-bound and lose the self-care ability. As to daily life, the prognosis of DMRV is extremely poor.

关 键 词：肌炎 包涵体 远端肌病 空泡 活组织检查 预后 

分 类 号：R686[医药卫生—骨科学]