摘要自身免疫性多发内分泌腺病综合征Ⅰ型(APS Ⅰ)是一种罕见的由于自身免疫调节(AIRE)基因突变导致的常染色体隐性遗传病.其临床表现主要包括,原发性肾上腺皮质功能减退症、甲状旁腺功能减退症和慢性黏膜皮肤念珠菌病,三者中至少存在2个,同时也可能存在其他的内分泌或非内分泌疾病.其治疗主要包括激素替代、抗感染以及免疫抑制疗法,通常预后不佳.近30余年来中国共报道了17例APS Ⅰ患者,对其组成疾病种类及发病率、起病年龄、AIRE基因突变等进行总结,有助于为临床提供参考.

abstractsAutoimmune polyglandular syndrome type Ⅰ (APS Ⅰ) is a rare autosommal recessive disease caused by mutations in the AIRE gene.Its clinical symptoms mainly include:Addison's disease,hypoparathyroidism,mucocutaneous candidiasis.At least two of the three symptoms shotdd occur.Other endocrine or nonendocrine diseases may occur,too.The therapy mainly includes hormone replacement,anti-infection and immunosuppressive treatment.The prognosis is usually poor.There are 17 cases of Chinese patients with APS Ⅰ during the past 30 years which had been summarized on components,incidence,onset age and AIRE gene mutations in order to provide clinical reference.