【摘要】 目的:探讨自身免疫性多内分泌腺病综合征Ⅰ型(APS-Ⅰ)的早期确诊方法。方法:报道1例中国APS-Ⅰ病例,结合国外72例APS-Ⅰ患者的表型和基因型进行分析。结果:APS-Ⅰ除3种典型表现外,尚可合并20余种其他病症,临床表现复杂,依靠传统的诊断方法易误诊;APS-Ⅰ的致病基因为自身免疫调节因子(AIRE)基因,对可疑患者积极进行基因检测可明确诊断。结论:APS-Ⅰ比较罕见,基因检测可早期确诊临床进展不典型的APS-Ⅰ。更多还原

【Abstract】 Objective:To discuss the early diagnostic method of autoimmune polyendocrinopathy syndrome type Ⅰ(APS-Ⅰ).Methods:One APS-Ⅰpatient in China was reported and the clinical manifestations and genetic test results about 72 patients with APS-Ⅰwere analyzed.Results:There was an extremely variable combination of over 20 autoimmune endocrine and non-endocrine disorders in addition to the typical triad in the patients with APS-Ⅰ,who were often misdiagnosed by the traditional diagnostic method.APS-Ⅰ was an autosomal recessive disorder associated with mutations in the autoimmune reg ulator(AIRE) gene and the detection of AIRE gene mutations could facilitate early and precise diagnosis.Conclusion:APS-Ⅰ is rare,and gene detection could earlier diagnose patients with APS-Ⅰ of nontypical clinical progress.更多还原