Komminoth P
Institut für Pathologie, Stadtspital Triemli, Birmensdorferstrasse 497, 8063, Zürich, Schweiz.
Pathologe. 2016 May;37(3):253-7. doi: 10.1007/s00292-016-0159-7.
Polyglandular autoimmune syndromes (PGAS), also known as autoimmune polyendocrinopathy syndromes (APS), are a heterogeneous group of rare, genetically caused diseases of the immune system which lead to inflammatory damage of various endocrine glands resulting in malfunctions. In addition, autoimmune diseases of non-endocrine organs may also be found. Early diagnosis of PGAS is often overlooked because of heterogeneous symptoms and the progressive occurrence of the individual diseases. The two most important forms of PGAS are the juvenile and adult types. The juvenile type (PGAS type 1) is caused by mutations in the autoimmune regulator (AIRE) gene on chromosome 21, exhibits geographic variations in incidence and is defined by the combination of mucocutaneous candidiasis, Addison's disease and hypoparathyroidism. In addition, autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) syndrome and other autoimmune diseases can also occur. The adult form of PGAS (PGAS type 2) is a multigenetic disorder associated with some HLA haplotypes, is more common than the juvenile type, shows female predominance and exhibits the combination of type 1 diabetes, autoimmune thyroid disease, Addison's disease and other autoimmune disorders. The histological alterations in affected organs of PGAS patients are similar to findings in sporadically occurring autoimmune diseases of these organs but there are no pathognomic fine tissue findings. If patients exhibit autoimmune changes in two different endocrine glands or if there are indications of several autoimmune disorders from the patient history, it is important to consider PGAS and inform the clinicians of this suspicion.
多腺体自身免疫综合征（PGAS），也称为自身免疫性多内分泌病综合征（APS），是一组由遗传因素导致的罕见的免疫系统疾病，具有异质性，会引发各种内分泌腺的炎性损伤，进而导致功能障碍。此外，还可能发现非内分泌器官的自身免疫性疾病。由于症状的异质性以及个体疾病的逐渐发生，PGAS的早期诊断常常被忽视。PGAS最重要的两种类型是青少年型和成人型。青少年型（PGAS 1型）由21号染色体上的自身免疫调节因子（AIRE）基因突变引起，发病率存在地域差异，其特征为黏膜皮肤念珠菌病、艾迪生病和甲状旁腺功能减退症同时出现。此外，还可能发生自身免疫性多内分泌病-念珠菌病-外胚层营养不良（APECED）综合征和其他自身免疫性疾病。成人型PGAS（PGAS 2型）是一种与某些人类白细胞抗原（HLA）单倍型相关的多基因疾病，比青少年型更为常见，女性患者居多，表现为1型糖尿病、自身免疫性甲状腺疾病、艾迪生病和其他自身免疫性疾病同时出现。PGAS患者受累器官的组织学改变与这些器官偶发性自身免疫性疾病的表现相似，但没有特征性的精细组织学表现。如果患者在两个不同的内分泌腺出现自身免疫性改变，或者根据患者病史有多种自身免疫性疾病的迹象，考虑PGAS并将这种怀疑告知临床医生是很重要的。
