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        "resumen" => "<p class="elsevierStyleSimplePara elsevierViewall">El s&#237;ndrome poliglandular autoinmune tipo 1 &#40;SPA-1&#41; es una enfermedad autos&#243;mica recesiva caracterizada por aparici&#243;n de candidiasis mucocut&#225;nea cr&#243;nica&#44; hipoparatiroidismo autoinmune e insuficiencia adrenal primaria&#46; Recientemente se ha descrito la asociaci&#243;n con el gen <span class="elsevierStyleItalic">AIRE</span> &#40;<span class="elsevierStyleItalic">autoimmune</span><span class="elsevierStyleItalic">regulator</span>&#41; localizado en el cromosoma 21&#46;</p><p class="elsevierStyleSimplePara elsevierViewall">Presentamos 2 casos de SPA-1 estudiados en nuestro centro&#46; El primero de ellos es una ni&#241;a de 11 a&#241;os con hipoparatiroidismo&#44; cuadro malabsortivo de etiolog&#237;a posiblemente inmunol&#243;gica y hepatitis autoinmune&#46; Ante la asociaci&#243;n de un hipoparatiroidismo con otros procesos autoinmunes se sospecha un SPA-1 y se realiza el estudio gen&#233;tico que revela una deleci&#243;n de 13 pares de bases en el ex&#243;n 8 del gen <span class="elsevierStyleItalic">AIRE</span>&#46; El segundo caso es una joven de 17 a&#241;os que presenta hepatitis autoinmune&#44; hipoparatiroidismo&#44; candidiasis mucocut&#225;nea&#44; distrofia ungueal y bronquiolitis obliterante de probable origen autoinmune&#46; Ante la sospecha de un SPA-1 se realiza el estudio gen&#233;tico en el que se detecta un polimorfismo del gen <span class="elsevierStyleItalic">AIRE</span>&#46;</p><p class="elsevierStyleSimplePara elsevierViewall">En conclusi&#243;n&#44; la aparici&#243;n de un &#250;nico criterio de enfermedad puede ser suficiente para sospechar un SPA-1 e indicar el estudio gen&#233;tico&#46; Es necesario realizar estudios m&#225;s amplios que confirmen la implicaci&#243;n de otros genes en el desarrollo de esta enfermedad&#46;</p>"
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Vol. 64. Núm. 6.
Páginas 583-587 (junio 2006)
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Mutación del gen AIRE en el síndrome poliglandular tipo I
Aire gene mutation in polyglandular syndrome type 1
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25036
M.ªM. Martínez Lópeza,
Autor para correspondencia
martinezlopezmm@hotmail.com

Correspondencia: Dra. M.ªM. Martínez López. Melchor Fernández Almagro, 16, 11B. 28029 Madrid. España.
, I. González Casadoa, R. Álvarez Dofornob, E. Delgado Cerviñob, R. Gracia Boutheliera
a Servicios de. Endocrinología Pediátrica. Hospital Universitario La Paz. Madrid. España
b Servicios de. Inmunología. Hospital Universitario La Paz. Madrid. España
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Estadísticas

El síndrome poliglandular autoinmune tipo 1 (SPA-1) es una enfermedad autosómica recesiva caracterizada por aparición de candidiasis mucocutánea crónica, hipoparatiroidismo autoinmune e insuficiencia adrenal primaria. Recientemente se ha descrito la asociación con el gen AIRE (autoimmuneregulator) localizado en el cromosoma 21.

Presentamos 2 casos de SPA-1 estudiados en nuestro centro. El primero de ellos es una niña de 11 años con hipoparatiroidismo, cuadro malabsortivo de etiología posiblemente inmunológica y hepatitis autoinmune. Ante la asociación de un hipoparatiroidismo con otros procesos autoinmunes se sospecha un SPA-1 y se realiza el estudio genético que revela una deleción de 13 pares de bases en el exón 8 del gen AIRE. El segundo caso es una joven de 17 años que presenta hepatitis autoinmune, hipoparatiroidismo, candidiasis mucocutánea, distrofia ungueal y bronquiolitis obliterante de probable origen autoinmune. Ante la sospecha de un SPA-1 se realiza el estudio genético en el que se detecta un polimorfismo del gen AIRE.

En conclusión, la aparición de un único criterio de enfermedad puede ser suficiente para sospechar un SPA-1 e indicar el estudio genético. Es necesario realizar estudios más amplios que confirmen la implicación de otros genes en el desarrollo de esta enfermedad.

Palabras clave:
APECED
AIRE
SPA-1

Autoimmune polyglandular syndrome type 1 (APS-1) is an autosomal recessive disorder characterized by chronic mucocutaneous candidiasis, autoimmune hypoparathyroidism, and primary adrenal insufficiency. It has recently been associated with mutations of a single gene found on chromosome 21, designated AutoImmune Regulator (AIRE).

We report two patients with APS-1 referred to our hospital for evaluation. The first patient was an 11-year-old girl with hypoparathyroidism, infectious or immunological malabsorption, and autoimmune hepatitis. Hypoparathyroidism associated with other processes with a probable autoimmune origin suggested APS-1. Genetic study was performed revealing deletion of 13 base pairs in exon 8 of the AIRE gene. The second patient was a 17-year-old girl with autoimmune hepatitis, hypoparathyroidism, mucocutaneous candidiasis, nail dystrophy, and obliterating bronchiolitis with a probable autoimmune origin. We suspected APS-1 and genetic study was performed. The only finding was an AIRE gene polymorphism.

In conclusion, the presence of a single disease criterion is sufficient to suspect APS-1 and to indicate genetic study. Further studies are required to confirm the involvement of other genes in the development of this disease.

Key words:
APECED
AIRE
SPA-1
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