Husebye E S, Perheentupa J, Rautemaa R, Kämpe O
Section of Endocrinology, Institute of Medicine, University of Bergen, Bergen, Norway.
J Intern Med. 2009 May;265(5):514-29. doi: 10.1111/j.1365-2796.2009.02090.x.
Autoimmune polyendocrine syndrome type I (APS-I) is a monogenic model disease of autoimmunity. Its hallmarks are chronic mucocutaneous candidosis, hypoparathyroidism and adrenal insufficiency, but many other autoimmune disease components occur less frequently. The first components usually appear in childhood, but may be delayed to adolescence or early adult life. There is enormous variation in presentation and phenotype, which makes the diagnosis difficult. Antibodies against interferon-omega and -alpha have recently been shown to be sensitive and relatively specific markers for APS-I, and mutational analysis of the autoimmune regulator gene gives the diagnosis in >95% of cases. The treatment and follow-up of patients is demanding and requires the collaboration of specialists of several fields. However, the literature is especially sparse regarding information on treatment and follow-up; hence, we present here a comprehensive overview on clinical characteristics, treatment and follow-up based on personal experience and published studies.
I型自身免疫性多内分泌腺综合征（APS-I）是自身免疫的单基因模型疾病。其特征为慢性黏膜皮肤念珠菌病、甲状旁腺功能减退和肾上腺功能不全，但许多其他自身免疫性疾病成分出现频率较低。最初的成分通常在儿童期出现，但可能延迟至青春期或成年早期。临床表现和表型存在巨大差异，这使得诊断困难。最近发现，针对ω干扰素和α干扰素的抗体是APS-I敏感且相对特异的标志物，对自身免疫调节基因进行突变分析可在95%以上的病例中做出诊断。患者的治疗和随访要求较高，需要多个领域的专家协作。然而，关于治疗和随访的信息，文献尤其稀少；因此，我们在此基于个人经验和已发表的研究，对临床特征、治疗和随访进行全面概述。
