Poliendocrinopatía autoinmune tipo 1 Genética Síntomas Referencias Menú de navegación31.0258.124030029212med/1867D016884Orphanet: Poliendocrinopatía autoinmune tipo 1.1284315710.1210/jc.2002-021495

Enfermedades rarasEnfermedades genéticas


síndrome poliglandular autoinmuneFinlandiaenfermedades de herencia finlandesaautosómico recesivocromosoma 21candidiasisautoinmunidadglándulas endocrinashipoparatiroidismoinsuficiencia suprarrenalenfermedad de Adissontiroiditis autoinmunediabetes mellitus


















Poliendocrinopatía autoinmune tipo 1
Clasificación y recursos externos
Especialidad
Endocrinología
CIE-10
E31.0
CIE-9
258.1
OMIM
240300
DiseasesDB
29212
eMedicine
med/1867
MeSH
D016884

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La poliendocrinopatía autoinmune tipo 1 es una rara enfermedad de origen genético. Recibe también el nombre de APECED, siendo esta palabra un acrónimo formado por las iniciales en inglés de los principales síntomas. Es un subtipo del síndrome poliglandular autoinmune más frecuente entre la población de Finlandia que en otras partes del mundo, por lo que se incluye en el grupo de trastornos conocidas como enfermedades de herencia finlandesa.[1]​



Genética


Se hereda según un patrón autosómico recesivo. La anomalía genética se ha localizado en el gen AIRE localizado en el cromosoma 21. Este gen regulador de la autoinmunidad confiere en condiciones normales tolerancia a los tejidos propios y actúa como inhibidor de la respuesta autoinmune.[2]​



Síntomas


Las manifestaciones se inician en la infancia en forma de infección por hongos del género cándida (candidiasis) que afecta sobre todo a la mucosa bucal y uñas. Más tarde aparece una respuesta de autoinmunidad que impide la correcta función de varias glándulas endocrinas y provoca hipoparatiroidismo, insuficiencia suprarrenal y enfermedad de Adisson, más raramente insuficiencia ovárica, tiroiditis autoinmune y diabetes mellitus.



Referencias



  1. ↑ Orphanet: Poliendocrinopatía autoinmune tipo 1. Consultado el 10 de enero de 2016


  2. ↑ Buzi, F; Badolato, R; Mazza, C; Giliani, S; Notarangelo, LD; Radetti, G; Plebani, A; Notarangelo, LD (julio de 2003). «Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome: time to review diagnostic criteria?». The Journal of Clinical Endocrinology and Metabolism 88 (7): 3146-8. PMID 12843157. doi:10.1210/jc.2002-021495. 








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