• Medicina clinica · Sep 2021

    Review

    Autoinmune polyendocrinopathy.

    • Mercè Fernández Miró, Cristina Colom Comí, and Rita Godoy Lorenzo.
    • Departamento de Medicina Interna y Especialidades Médicas, Centre d'Atenció Integral Dos de Maig, Consorci Sanitari Integral, Barcelona, España. Electronic address: mfmiro79@gmail.com.
    • Med Clin (Barc). 2021 Sep 10; 157 (5): 241-246.

    AbstractPluriglandular 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.Copyright © 2021 Elsevier España, S.L.U. All rights reserved.

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