肢带型肌营养不良2B型七例临床与病理分析  

Clinical and pathological analysis of seven patients with limb-girdle muscular dystrophy 2B

作　　者：尹小玲[1] 张宁[2] 李秋香[2] 

机构地区：[1]山东省威海市文登中心医院重症医学科,264400 [2]中南大学湘雅医院神经内科

出　　处：《中国医师进修杂志》2014年第28期7-9,共3页Chinese Journal of Postgraduates of Medicine

摘　　要：目的 分析肢带型肌营养不良2B型（LGMD2B）临床与分子病理学特点.方法 回顾性分析7例LGMD2B患者的临床和骨骼肌活检病理资料.结果 7例患者均缓慢起病,表现肢体近端肌无力、肌萎缩,进行性加重,血肌酸激酶增高;肌活检病理检查均有不同程度的肌纤维变性、坏死,间质和肌纤维内炎性细胞浸润;单克隆抗体免疫组织化学染色：肌细胞膜未见Dysferlin蛋白表达,Dystrophin、Sarcoglycans蛋白均表达正常.单克隆抗体免疫组织化学染色细胞膜上述蛋白均表达正常.结论 LGMD2B缓慢起病,进行性肢体近端肌无力、肌萎缩.组织化学染色基础上进一步行免疫组织化学染色,判断其膜蛋白尤其Dysferlin蛋白表达情况,是确诊LGMD2B及与炎性肌病鉴别的必要手段.Objective To analyze the clinical and pathological features of limb-girdle muscular dystrophy2B（LGMD2B）.Methods The clinical and pathological features of 7 patients with LGMD2B were analyzed retrospectively.Results Seven patients had a slow onset,and progressive proximal muscle weakness,muscle atrophy,progressive,and incresed serum creatine phosphokinase; muscle biopsy showed different degree of muscle fiber degeneration,necrosis; stromal and inflammatory cell infiltration in muscle fiber; monoclonal antibody immunohistoehemical staining：showed expression of Dysferlin protein was not found in muscle cell membrane,Dystrophin,Sarcoglycans protein expression was normal.Monoclonal antibody immunohistochemical staining the proteins were expressed in normal cell membrane.Conclusions LGMD2B is a slow onset,progressive proximal muscle weakness,muscle atrophy.Histochemical staining on the basis of further immunohistochemical staining,to detect the membrane protein and Dysferlin protein expression,that is a necessary means to diagnose LGMD2B and inflammatory myopathies.

关 键 词：肌营养不良 肢带型 病理学 

分 类 号：R746.2[医药卫生—神经病学与精神病学]