腓骨肌萎缩症的病理学特点和基因突变

目的探讨腓骨肌萎缩症（CMT）患者的病理学特点及其与基因突变的关系。方法对26例患者的临床表现和病理特点以及13例基因突变分析结果进行回顾性分析。结果5例周围髓鞘蛋白22基因重复突变患者中出现髓鞘脱失、增厚各4例,2例出现“洋葱球”样改变,无轴索变性;4例连接蛋白32基因突变患者出现髓鞘脱失3例,髓鞘增厚1例,无轴索变性;热休克蛋白22和热休克蛋白27基因突变各1例,均表现为轴索萎缩、缺失和再生。结论本组基因突变患者的病理活检结果与国外报道的腓骨肌萎缩症的病理特点不完全相同;基因突变分析结果与病理表现一致,准确性高、损伤小,可早期诊断,值得广泛应用于临床,特别是有家族史的患者或高危亲属。

Analysis of the pathological features and gene mutations of Chinese patients with Charcot-Marie-Tooth disease

Objective To analyze the relationship of the pathological features and the gene mutations of Chinese patients with Charcot-Marie-Tooth disease.Methods The clinical manifestations and pathological investigations of 26 Chinese patients with Charcot-Marie-Tooth disease,17males and 9females,aged 19.0(4-49),with an average disease course of 0.5~30 years,16 being with CMT1 type and 10 being with CMT2 type.Biopsy of sural nerve was conducted in 26 cases,and gene diagnosis was carried out in 13 cases.Results Five patients were with peripheral myelin protein-22(PMP22) duplication,4 of which showed demyelination,4 of which showed incrassation of myelin sheath,and two of which showed "onion bulb" change without axonal denaturation.Four cases were with connexin 32(Cx32) point mutations,3 of which showed demyelination and one of which showed incrassation of myelin sheath and absence of axonal denaturation.The 2 patients with heat shock protein 22(Hsp22) and heat shock protein 27(Hsp27) point mutations both showed axonal atrophy,axonal loss and axonal regeneration.Conclusion The pathological findings of the Chinese CMT patients performed by mutation screening were not completely consistent with the pathological features reported abroad.The results of the mutation screening are consistent with the pathological features;mutation screening has the character of high accuracy,little harm and helps diagnose early,so it is suggested to be performed widely clinically,especially to the patients who has family history or to their lineal relatives.