重症肌无力孪生子的特点

Features of twin patients with myasthenia gravis

目的 探讨遗传因素与环境因素在重症肌无力 (MG)发病机制中的关系。方法 分析 5对孪生子患者的临床特点 ,测定血清AChRab滴度 ,进行血型、染色体分析及HLA抗原分型。结果 5对均为单卵孪生子 ,其MG临床表现的同病一致率为 1 0 0 % ;4对患者的血清AChRab滴度显著高于正常 ;2对患者的HLA 补体型分别为S42 /S42和FO1 /S2 1 ,HLA Ⅱ类基因型为DRB1基因的 0 90 1和 1 30 1位点 ,染色体分析未见异常。结论 有些类型MG的发病可能主要与遗传因素有关 。

Objective To study the relationship between genetic defects and environmental factors in pathogenesis of myasthenia gravis(MG) Methods The clinical features of five pairs of twins with MG were analyzed The serum AChRab titers,blood types,chromosomes and HLA types were detected Results Five pairs of twins were found monozygotic The concordance rate of those twins in clinical manifestations of MG was 100% Four pairs of twins were increased in titers of serum AChRab The HLA complement types of two pairs of monozygotes were S42/S42 and FO1/S21,respectively Their HLA Ⅱ genotypes were DRB1 0901 and 1301 No abnormalities were detected in chromosomes of these patients Conclusions The occurrence of some MG may be related to genetic defects The phenotype of these MG may be the results of influence of genetic defects and the environmental factors.