Departamento de Medicina Interna y Especialidades Médicas, Centre d'Atenció Integral Dos de Maig, Consorci Sanitari Integral, Barcelona, España.
Departamento de Medicina Interna y Especialidades Médicas, Centre d'Atenció Integral Dos de Maig, Consorci Sanitari Integral, Barcelona, España.
Med Clin (Barc). 2021 Sep 10;157(5):241-246. doi: 10.1016/j.medcli.2021.02.004. Epub 2021 May 3.
Pluriglandular autoimmune syndrome (APS) can affect multiple endocrine glands and is associated with other autoimmune diseases. APS type 1 presents with hypoparathyroidism, mucocutaneous candidiasis and Addison's disease. It is caused by AutoImmune Regulator (AIRE) gene mutation. The diagnosis includes clinical manifestations in addition to AIRE gene sequencing. SPA type 2 presents with Addison's disease, type 1 diabetes, or autoimmune thyroid disease. Multiple genes have been implicated, including those of the class II major histocompatibility complex. SPA type 3 is characterized by autoimmune thyroid disease and other autoimmune disease, excluding Addison's disease and hypoparathyroidism, 4 genes have been implicated and confer susceptibility. The diagnosis of APS type 2 and type 3 includes clinical manifestations, nevertheless, the determination of autoantibodies can be useful to predict the risk of disease manifestation and to confirm the autoimmune disease in some cases.
多腺体自身免疫综合征 (APS) 可影响多个内分泌腺体，并与其他自身免疫性疾病相关。APS 1 型表现为甲状旁腺功能减退症、黏膜皮肤念珠菌病和艾迪生病。它是由自身免疫调节因子 (AIRE) 基因突变引起的。诊断包括临床表现以及 AIRE 基因测序。SPA 2 型表现为艾迪生病、1 型糖尿病或自身免疫性甲状腺疾病。多个基因与 SPA 2 型相关，包括 II 类主要组织相容性复合体基因。SPA 3 型的特征是自身免疫性甲状腺疾病和其他自身免疫性疾病，但不包括艾迪生病和甲状旁腺功能减退症，已发现 4 个相关基因，并具有易感性。APS 2 型和 3 型的诊断包括临床表现，但自身抗体的测定有助于预测疾病表现的风险，并在某些情况下证实自身免疫性疾病。
