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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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"apellidos" => "Virto Ruiz" ] ] ] ] ] "idiomaDefecto" => "es" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S169540330670128X?idApp=UINPBA00005H" "url" => "/16954033/0000006400000006/v1_201307051503/S169540330670128X/v1_201307051503/es/main.assets" ] "itemAnterior" => array:18 [ "pii" => "S1695403306701266" "issn" => "16954033" "doi" => "10.1157/13089924" "estado" => "S300" "fechaPublicacion" => "2006-06-01" "aid" => "70126" "copyright" => "Asociación Española de Pediatría" "documento" => "article" "crossmark" => 0 "subdocumento" => "sco" "cita" => "An Pediatr (Barc). 2006;64:578-82" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:2 [ "total" => 12095 "formatos" => array:3 [ "EPUB" => 117 "HTML" => 8904 "PDF" => 3074 ] ] "es" => array:11 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Notas Clínicas</span>" "titulo" => "Síndrome de Holt-Oram: caracterización de una nueva mutación" "tienePdf" => "es" "tieneTextoCompleto" => 0 "tieneResumen" => array:2 [ 0 => "es" 1 => "en" ] "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "578" "paginaFinal" => "582" ] ] "titulosAlternativos" => array:1 [ "en" => array:1 [ "titulo" => "Holt-oram syndrome: characterization of a novel mutation" ] ] "contieneResumen" => array:2 [ "es" => true "en" => true ] "contienePdf" => array:1 [ "es" => true ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "L. Fernández García-Moya, P. Lapunzina Badía, A. Delicado Navarro, A. Sharif, G. Cross, M.ªA. Mori Álvarez, M.ªL. de Torres Perezhidalgo, M. Palomares Bralo, P. García Sánchez, L. García-Guereta Silva, I. López Pajares" "autores" => array:11 [ 0 => array:2 [ "nombre" => "L." "apellidos" => "Fernández García-Moya" ] 1 => array:2 [ "nombre" => "P." "apellidos" => "Lapunzina Badía" ] 2 => array:2 [ "nombre" => "A." "apellidos" => "Delicado Navarro" ] 3 => array:2 [ "nombre" => "A." "apellidos" => "Sharif" ] 4 => array:2 [ "nombre" => "G." "apellidos" => "Cross" ] 5 => array:2 [ "nombre" => "M.ªA." "apellidos" => "Mori Álvarez" ] 6 => array:2 [ "nombre" => "M.ªL." "apellidos" => "de Torres Perezhidalgo" ] 7 => array:2 [ "nombre" => "M." "apellidos" => "Palomares Bralo" ] 8 => array:2 [ "nombre" => "P." "apellidos" => "García Sánchez" ] 9 => array:2 [ "nombre" => "L." "apellidos" => "García-Guereta Silva" ] 10 => array:2 [ "nombre" => "I." "apellidos" => "López Pajares" ] ] ] ] ] "idiomaDefecto" => "es" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S1695403306701266?idApp=UINPBA00005H" "url" => "/16954033/0000006400000006/v1_201307051503/S1695403306701266/v1_201307051503/es/main.assets" ] "es" => array:15 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Notas Clínicas</span>" "titulo" => "Mutación del gen <span class="elsevierStyleItalic">AIRE</span> en el síndrome poliglandular tipo I" "tieneTextoCompleto" => 0 "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "583" "paginaFinal" => "587" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "M.ªM. Martínez López, I. González Casado, R. Álvarez Doforno, E. Delgado Cerviño, R. Gracia Bouthelier" "autores" => array:5 [ 0 => array:4 [ "nombre" => "M.ªM." "apellidos" => "Martínez López" "email" => array:1 [ 0 => "martinezlopezmm@hotmail.com" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff1" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">¿</span>" "identificador" => "cor1" ] ] ] 1 => array:3 [ "nombre" => "I." "apellidos" => "González Casado" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff1" ] ] ] 2 => array:3 [ "nombre" => "R." "apellidos" => "Álvarez Doforno" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff2" ] ] ] 3 => array:3 [ "nombre" => "E." "apellidos" => "Delgado Cerviño" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff2" ] ] ] 4 => array:3 [ "nombre" => "R." "apellidos" => "Gracia Bouthelier" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff1" ] ] ] ] "afiliaciones" => array:2 [ 0 => array:3 [ "entidad" => "Servicios de. Endocrinología Pediátrica. Hospital Universitario La Paz. Madrid. España" "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff1" ] 1 => array:3 [ "entidad" => "Servicios de. Inmunología. Hospital Universitario La Paz. Madrid. España" "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff2" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor1" "etiqueta" => "⁎" "correspondencia" => "Correspondencia: Dra. M.ªM. Martínez López. Melchor Fernández Almagro, 16, 11B. 28029 Madrid. España." ] ] ] ] "titulosAlternativos" => array:1 [ "en" => array:1 [ "titulo" => "Aire gene mutation in polyglandular syndrome type 1" ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "2005-05-31" "fechaAceptado" => "2006-01-31" "PalabrasClave" => array:2 [ "es" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Palabras clave" "identificador" => "xpalclavsec186349" "palabras" => array:3 [ 0 => "APECED" 1 => "<span class="elsevierStyleItalic">AIRE</span>" 2 => "SPA-1" ] ] ] "en" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Key words" "identificador" => "xpalclavsec186350" "palabras" => array:3 [ 0 => "APECED" 1 => "<span class="elsevierStyleItalic">AIRE</span>" 2 => "SPA-1" ] ] ] ] "tieneResumen" => true "resumen" => array:2 [ "es" => array:1 [ "resumen" => "<p class="elsevierStyleSimplePara elsevierViewall">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 <span class="elsevierStyleItalic">AIRE</span> (<span class="elsevierStyleItalic">autoimmune</span><span class="elsevierStyleItalic">regulator</span>) localizado en el cromosoma 21.</p><p class="elsevierStyleSimplePara elsevierViewall">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 <span class="elsevierStyleItalic">AIRE</span>. 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 <span class="elsevierStyleItalic">AIRE</span>.</p><p class="elsevierStyleSimplePara elsevierViewall">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.</p>" ] "en" => array:1 [ "resumen" => "<p class="elsevierStyleSimplePara elsevierViewall">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 (<span class="elsevierStyleItalic">AIRE</span>).</p><p class="elsevierStyleSimplePara elsevierViewall">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 <span class="elsevierStyleItalic">AIRE</span> 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 <span class="elsevierStyleItalic">AIRE</span> gene polymorphism.</p><p class="elsevierStyleSimplePara elsevierViewall">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.</p>" ] ] "bibliografia" => array:2 [ "titulo" => "Bibliografía" "seccion" => array:1 [ 0 => array:1 [ "bibliografiaReferencia" => array:19 [ 0 => array:3 [ "identificador" => "bib1" "etiqueta" => "1." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Enfermedad endocrina y autoinmunidad" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:3 [ 0 => "L. Castaño" 1 => "J.R. Bilbao" 2 => "B. 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Información del artículo
ISSN: 16954033Idioma original: Español
DOI:10.1157/13089925
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