摘要
目的 分析12例基因确诊的肯尼迪病患者的骨骼肌和周围神经病理改变特点.方法 选取2006年1月至2014年10月于北京大学第一医院神经内科就诊的男性患者12例.所有患者最终经雄激素受体基因检测确诊为肯尼迪病.平均年龄为（52±10）岁.起病部位均为下肢.患者肌酸激酶出现不同程度升高,在209～3 600 U/L之间.神经电生理检查发现患者出现广泛神经源性损害,周围神经中运动神经和感觉神经均可受累.8例进行肱二头肌活检,3例进行腓肠肌活检,1例行股四头肌活检,4例进行腓肠神经活检,分析其病理特点.结果 患者的骨骼肌主要病理表现是出现神经源性病理改变,部分患者伴随肌病样病理改变,表现为肌纤维坏死、再生、分裂、涡旋、核内移以及氧化酶活性下降.4例的腓肠神经出现有髓神经纤维数目减少,部分患者出现毛细血管基底膜增厚,伴随轴索变性、再生簇及薄髓鞘纤维,电镜检查可见轴索变性、再生簇、薄髓鞘纤维以及洋葱球样病理改变.结论 肯尼迪病的骨骼肌存在肌病样病理改变,伴随慢性轴索性及髓鞘性感觉神经损害.
Objective To explore the pathological features of muscles and peripheral nerves of Kennedy＆#39;s disease （KD）.Methods A total of 12 male patients were selected at our department from January 2006 to October 2014.Their definite diagnoses of KD were made by genetic testing of androgen receptor.Their average age was （52 ± 10） years old.All onset sites were lower limbs.Serum creatine kinase levels were elevated in varying degrees of 209-3 600 U/L.Electrophysiological examination revealed generalized neurogenic damage and impaired peripheral motor and sensory nerves.Biopsies were performed on biceps brachii （n =8）,gastrocnemius （n =3）,quadriceps femoris （n =1） and sural nerve （n =4）.Results The major muscular pathological features were neurogenic pathological changes.Some patients had myopathic changes,showing necrotic fibers,regenerating fibers,fiber splitting,vortex-like fibers,central nuclei and reduced oxidase activities.Sural nerve pathology of 4 patients showed a loss of myelinated nerve fibers,as well as axonal degeneration,regeneration clusters and thin myelinated fibers.Electron microscopy examination showed axonal degeneration,regeneration clusters,thin myelinated fibers and onion bulbs-like pathological changes.Conclusion KD has myopathic changes with an impairment of chronic axonal and demyelinating sensory nerves.
出处
《中华医学杂志》
CAS
CSCD
北大核心
2015年第21期1681-1685,共5页
National Medical Journal of China
关键词
肯尼迪病
雄激素受体
病理
Kennedy＇s disease
Androgen receptor
Pathology
