摘要
目的探讨免疫组织化学（immunohistochemistry，IHC）和免疫印迹（Westernblot）法在诊断dystrophin表达异常的临床表现相对良性肌病中的价值。方法收集4例肌肉活体组织检查标本显示dystrophin表达异常、临床表现良性的肌病患者的病史、临床特点，并对肌肉组织标本分别行组织学、IHC（dys—N、dys—R及dys—C）染色，同时进行Western blot分析。结果4例患者中2例主要表现为肢体无力，另2例主要表现为单纯的肌肉疼痛和血清CK升高。组织学显示2例为明显肌源性改变，可见肌纤维萎缩、肥大及分裂现象，另2例仅见肌纤维轻度大小不等。IHC发现1例患者肌纤维膜dys—N无表达，dys—R及dys—C显示肌纤维膜清晰着色，Westernblot示dys—R及dys-C条带较健康对照淡，dys—N条带完全缺失；3例IHC显示患者dys—R无表达，ays—N及dys—C显示肌纤维膜清晰着色，其中2例Western blot示dys—R条带完全缺失，dys-C及dys—N条带相对分子质量改变。结论利用3种抗dystrophin抗体进行肌肉组织IHC标记可以减少漏诊，Western blot对进一步确定dystrophin蛋白异常类型是十分必要的。
Objective To investigate the value of the immunohistochemistry and Western blot in the diagnosis of the benign muscular dystrophy with abnormal dystrophin expression. Methods The medical histories and clinical manifestations of 4 patients were collected. In addition to routine histological and histochemical studies, expression of dystrophin in muscle fibers was observed by immunohistochemical reaction （dys-N, dys-R and dys-C ） and Western blot to anti-dystrophin antibody. Results Two patients had muscular weakness while another 2 patients had only muscular pain and elevated creatine kinase blood levels without muscular weakness. Histochemical stains showed atrophy, hypertrophy and fiber splitting in 2 patients, while only variation in fiber size was presented in another 2 patients. One patient bad no reaction for dys-N, but had immunostains for dys-C and dys-R in the sarcolemma of muscle fibers. Western blot confirmed that the band of dys-C and dys-R was partly deficient, and the band of dys-N was absent compared with control. Three patients had no reaction for dys-R, but had immunostains for dys-C and dys-N. Compared with control, Western blot confirmed that the band of dys-R was absent, and the band of dys-C and dys-N were truncated. Conclusion The immunohistochemistry is stained with three anti-dystrophin antibodies to avoid diagnostic errors. Western blot is essential to further determine the type of dystrophin protein.
出处
《中华神经科杂志》
CAS
CSCD
北大核心
2010年第1期45-50,共6页
Chinese Journal of Neurology
