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Inicio Medicina Clínica (English Edition) Autoimmune polyendocrinopathy
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Vol. 157. Issue 5.
Pages 241-246 (September 2021)
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Vol. 157. Issue 5.
Pages 241-246 (September 2021)
Review
Autoimmune polyendocrinopathy
Síndromes pluriglandulares autoinmunes
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5
Mercè Fernández Miró
Corresponding author
mfmiro79@gmail.com

Corresponding author.
, Cristina Colom Comí, Rita Godoy Lorenzo
Departamento de Medicina Interna y Especialidades Médicas, Centre d’Atenció Integral Dos de Maig, Consorci Sanitari Integral, Barcelona, Spain
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Table 1. Characteristics of the different autoimmune polyendocrinopathies.
Abstract

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.

Keywords:
Polyendocrine syndrome
Autoimmune diseases
Autoinmune polyendocrinopathy
Resumen

Los síndromes pluriglandulares autoinmunes (SPA) afectan a múltiples glándulas endocrinas y asocian otras enfermedades autoinmunes. El SPA tipo 1 se presenta con hipoparatiroidismo, candidiasis mucocutánea y enfermedad de Addison, se debe a una mutación en el gen AIRE (AutoImmune Regulator). El diagnóstico es clínico además de la secuenciación del gen AIRE. El SPA tipo 2 se presenta con enfermedad de Addison, diabetes mellitus tipo1 o enfermedad tiroidea autoinmune, se han implicado múltiples genes, entre ellos los del complejo mayor de histocompatibilidad tipo 2. El SPA tipo 3 se caracteriza por la presencia de enfermedad tiroidea autoinmune y otra enfermedad autoinmune, excluyendo la enfermedad de Addison y el hipoparatiroidismo, se han implicado 4 genes que pueden conferir susceptibilidad. El diagnóstico del SPA tipo 2 y tipo 3 es clínico, aunque la determinación de autoanticuerpos puede ser útil para la evaluación del riesgo de presentar la enfermedad y para confirmar la enfermedad autoinmune en algunos casos.

Palabras clave:
Síndrome poliendocrino
Enfermedades autoinmunes
Poliendocrinopatía autoinmune

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