自身免疫多内分泌腺病综合征Ⅲ型合并重症肌无力一例报道及人类白细胞抗原基因分析

Human leukocyte antigen analysis in a case of autoimmune polyendocrine syndrome typeⅢand complicated with myasthenia gravis

1型糖尿病合并自身免疫性甲状腺疾病是自身免疫多内分泌腺病综合征(APS)Ⅲ型最常见的类型,但重症肌无力合并APS Ⅲ型罕见报道。本研究对1例先后出现眼肌型重症肌无力、1型糖尿病、桥本甲状腺炎的APS Ⅲ型合并重症肌无力的男性患者进行了人类白细胞抗原(HLA)基因分析及文献回顾11例APSⅢ合并重症肌无力,发现HLA-DR9/DQ9可能为重症肌无力合并APS Ⅲ型的一种特殊HLA亚型。

Type 1 diabetes mellitus and autoimmune thyroid disorders are the most common combination of autoimmune polyendocrine syndrome typeⅢ(APSⅢ).However,APSⅢcombined with myasthenia gravis is rare.We described a male patient with myasthenia gravis,type 1 diabetes mellitus,and Hashimoto thyroiditis,who was diagnosed as APSⅢ.The human leukocyte antigen(HLA)type was analyzed in this patient.We subsequently reviewed 11 cases of APSⅢcombined with myasthenia gravis.This review revealed that HLA-DR9/DQ9 might be a specific HLA subtype associated with APSⅢand complicated with myasthenia gravis.