{"id":352,"date":"2020-11-03T12:32:20","date_gmt":"2020-11-03T12:32:20","guid":{"rendered":"https:\/\/dermatly.com\/sindrome-poliglandular-autoinmune-tipo-1\/"},"modified":"2026-03-10T13:26:47","modified_gmt":"2026-03-10T13:26:47","slug":"polyglandulair-auto-immuunsyndroom-type-1","status":"publish","type":"glossary","link":"https:\/\/dermatly.com\/nl\/sindrome-poliglandular-autoinmune-tipo-1\/","title":{"rendered":"S\u00edndrome poliglandular autoinmune tipo 1"},"content":{"rendered":"<p>\u00ab`html<\/p>\n<section class=\"textBlock\">\n<h1>S\u00edndrome Poliglandular Autoinmune Tipo 1 (APS1): Definici\u00f3n y Caracter\u00edsticas<\/h1>\n<p>El s\u00edndrome poliglandular autoinmune tipo 1 (APS1) es una afecci\u00f3n autoinmune compleja que provoca insuficiencia en m\u00faltiples <span class=\"term\" data-term-id=\"1196\">endocrino<\/span> <span class=\"term\" data-term-id=\"2389\">gl\u00e1ndulas<\/span>. Esta condici\u00f3n es conocida por varios sin\u00f3nimos, incluyendo s\u00edndrome poliendocrino autoinmune tipo 1, poliendocrinopat\u00eda-candidiasis\u2013<span class=\"term\" data-term-id=\"375\">ectod\u00e9rmico<\/span> <span class=\"term\" data-term-id=\"74\">distrofia<\/span> (APECED), s\u00edndrome de Whitaker y candidiasis-hipoparatiroidismo-s\u00edndrome de la enfermedad de Addison.<\/p>\n<p>La descripci\u00f3n inicial de APS1 se remonta al siglo XIX, gracias al trabajo del Dr. Thomas Addison.<\/p>\n<h2>Poblaci\u00f3n Afectada por el S\u00edndrome Poliglandular Autoinmune Tipo 1<\/h2>\n<p>El APS1 posee un componente hereditario, y existe una ligera mayor prevalencia en mujeres y ni\u00f1as en comparaci\u00f3n con hombres y ni\u00f1os en el <span class=\"term\" data-term-id=\"2343\">desarrollar<\/span> del s\u00edndrome. Debido a la <span class=\"term\" data-term-id=\"835\">consanguinidad<\/span> o a la agrupaci\u00f3n de poblaciones con un ancestro fundador com\u00fan, su incidencia es notablemente m\u00e1s alta en ciertos grupos \u00e9tnicos espec\u00edficos. Es considerado <span class=\"term\" data-term-id=\"1676\">predominante<\/span> entre:<\/p>\n<ul>\n<li>Jud\u00edos iran\u00edes (con una prevalencia de 1 en 9000)<\/li>\n<li>Sardos (1 en 14.400)<\/li>\n<li>Finlandeses (1 de cada 25.000).<\/li>\n<\/ul>\n<p>Fuera de estas poblaciones espec\u00edficas, el APS1 se considera una condici\u00f3n rara.<\/p>\n<div id=\"square-placement-country-holder\" class=\"country-dependent advert\">\n<div class=\"box-placement square-placement\">\n<div class=\"advert__frame\">\n                <!-- \/340621630\/dermnet_mobile_afterfirstsection_300x250 --><\/p>\n<div style=\"display: none;\" id=\"hidden-div-gpt-ad-1484122037505-8\" class=\"[ js-hideable ]\"><\/div>\n<p>                <script>\n                    if (ads_screenwidth < 780 ) {\n                        var inline = document.createElement(\"div\");\n                        var ad = document.createElement(\"div\");\n\n                        ad.id = 'div-gpt-ad-1484122037505-8';\n                        ad.style.height=\"250px\";\n                        ad.style.width=\"300px;\";\n\n                        inline.appendChild(ad);\n                        inline.className = \"inline\";\n                        var placeholder = document.getElementById(\"hidden-div-gpt-ad-1484122037505-8\");\n                        placeholder.parentNode.replaceChild(inline, placeholder);\n                        (function () {\n                            googletag.cmd.push(function () {\n                                googletag.display('div-gpt-ad-1484122037505-8');\n                            });\n                        })();\n                    }\n                <\/script>\n            <\/div>\n<\/p><\/div>\n<\/p><\/div>\n<h2>Causas Gen\u00e9ticas del S\u00edndrome Poliglandular Autoinmune Tipo 1<\/h2>\n<p>La etiolog\u00eda del APS1 reside en las <span class=\"term\" data-term-id=\"774\">gene<\/span> <span class=\"term\" data-term-id=\"871\">mutaciones<\/span> presentes en el gen regulador autoinmune, conocido como <em>AIRE<\/em>, ubicado en el <span class=\"term\" data-term-id=\"1271\">cromosoma<\/span> 21q22. Este trastorno se transmite mediante un patr\u00f3n <span class=\"term\" data-term-id=\"828\">autos\u00f3mico<\/span> recesivo, lo que significa que se requieren dos copias del gen an\u00f3malo para que la condici\u00f3n se manifieste. Estas alteraciones gen\u00e9ticas desencadenan la producci\u00f3n de <span class=\"term\" data-term-id=\"352\">autoanticuerpos<\/span>, provocando <span class=\"term\" data-term-id=\"319\">cr\u00f3nico<\/span> <span class=\"term\" data-term-id=\"490\">inflamatorio<\/span> <span class=\"term\" data-term-id=\"542\">infiltrados<\/span> en los \u00f3rganos afectados por esta autoinmunidad.<\/p>\n<h2>Manifestaciones Cl\u00ednicas Distintivas del APS1<\/h2>\n<p>Los s\u00edntomas del s\u00edndrome poliglandular autoinmune tipo 1 suelen emerger con mayor frecuencia en la infancia, espec\u00edficamente entre los 3 y 5 a\u00f1os. No obstante, la mayor\u00eda de los diagn\u00f3sticos se realizan durante la adolescencia temprana, y todos los casos aparecen antes de los 30 a\u00f1os.<\/p>\n<p>El diagn\u00f3stico cl\u00ednico del APS1 se sustenta en la presencia de tres caracter\u00edsticas cardinales esenciales:<\/p>\n<ol>\n<li>Candidiasis <span class=\"term\" data-term-id=\"1019\">mucocut\u00e1neo<\/span>: Afectaci\u00f3n de las membranas <span class=\"term\" data-term-id=\"188\">mucoso<\/span> y la piel.<\/li>\n<li>Hipoparatiroidismo: Consecuencia de bajos niveles de calcio circulante, lo que causa s\u00edntomas como entumecimiento y hormigueo facial y en extremidades, calambres musculares, debilidad y fatiga generalizada.<\/li>\n<li>Enfermedad de Addison: Insuficiencia de las gl\u00e1ndulas suprarrenales que se manifiesta a trav\u00e9s de cambios en la <span class=\"term\" data-term-id=\"1521\">pigmentaci\u00f3n<\/span> de la piel, p\u00e9rdida de apetito, adelgazamiento, fatiga cr\u00f3nica e hipotensi\u00f3n.<\/li>\n<\/ol>\n<p>Adicionalmente, aunque con menor frecuencia, algunos pacientes pueden experimentar otras comorbilidades asociadas a este complejo s\u00edndrome:<\/p>\n<ul>\n<li>Hipogonadismo <span class=\"term\" data-term-id=\"1840\">hipogonadotr\u00f3pico<\/span><\/li>\n<li><span class=\"term\" data-term-id=\"598\">Anemia<\/span> perniciosa<\/li>\n<li>Hepatitis <span class=\"term\" data-term-id=\"1801\">activo<\/span> cr\u00f3nica<\/li>\n<li>Asplenia<\/li>\n<li>Queratoconjuntivitis<\/li>\n<li><span class=\"term\" data-term-id=\"750\">Intersticial<\/span>... [Nota: El listado estaba incompleto en el original, se mantiene la estructura.]<\/li>\n<\/ul>\n<\/section>\n<p>```<\/p>\n<ul>\n<li><span class=\"term\" data-term-id=\"994\">Nefritis<\/span><\/li>\n<li>Diabetes mellitus tipo 1<\/li>\n<li>Colelitiasis<\/li>\n<li><span class=\"term\" data-term-id=\"824\">Alopecia<\/span> areata<\/li>\n<li>Malabsorci\u00f3n<\/li>\n<li>Vitiligo<\/li>\n<\/ul>\n<section class=\"textBlock imageLinkBlockTitle\">\n<h2 class=\"colour--primary\">Manifestaciones Cut\u00e1neas del APS Tipo 1<\/h2>\n<\/section>\n<section class=\"imageLinkBlock\">\n<div class=\"flex\">\n<div class=\"imageLinkBlock__item__image\">\n            <img decoding=\"async\" src=\"https:\/\/dermatly.com\/wp-content\/uploads\/2020\/11\/vitiligo-09__ProtectWyJQcm90ZWN0Il0_FocusFillWzI5NCwyMjIsIngiLDFd.jpg\" alt=\"Manchas blancas caracter\u00edsticas del Vitiligo en la piel.\">\n        <\/div>\n<p class=\"p-small\">Vitiligo<\/p>\n<div class=\"imageLinkBlock__item__image\">\n            <img decoding=\"async\" src=\"https:\/\/dermatly.com\/wp-content\/uploads\/2020\/11\/alopecia-areata-1__ProtectWyJQcm90ZWN0Il0_FocusFillWzI5NCwyMjIsIngiLDFd.JPG\" alt=\"P\u00e9rdida de cabello en parches redondos, indicativo de Alopecia areata.\">\n        <\/div>\n<p class=\"p-small\">Alopecia areata<\/p>\n<div class=\"imageLinkBlock__item__image\">\n            <img decoding=\"async\" src=\"https:\/\/dermatly.com\/wp-content\/uploads\/2020\/11\/addison-01__ProtectWyJQcm90ZWN0Il0_FocusFillWzI5NCwyMjIsIngiLDIzXQ.JPG\" alt=\"Pigmentaci\u00f3n oscura en el pliegue palmar, signo de la enfermedad de Addison.\">\n        <\/div>\n<p class=\"p-small\">Enfermedad de Addison<\/p>\n<\/p><\/div>\n<\/section>\n<div class=\"clearfix imageLinkBlock\"><\/div>\n<h2>Diagn\u00f3stico del S\u00edndrome Poliglandular Autoinmune Tipo 1<\/h2>\n<p>Si un paciente muestra evidencia de m\u00e1s de una deficiencia endocrina, se deben realizar pruebas adicionales para confirmar el S\u00edndrome Poliglandular Autoinmune tipo 1 (APS1). Estas pruebas confirman la naturaleza autoinmune del trastorno e incluyen:<\/p>\n<ul>\n<li>Una pantalla autoinmune en <span class=\"term\" data-term-id=\"1430\">suero<\/span>.<\/li>\n<li>Pruebas de la funci\u00f3n de los \u00f3rganos diana afectados.<\/li>\n<\/ul>\n<p>Se pueden solicitar an\u00e1lisis de sangre complementarios para evaluar hormonas espec\u00edficas, como <span class=\"term\" data-term-id=\"567\">testosterona<\/span>, estradiol, hormona <span class=\"term\" data-term-id=\"1300\">fol\u00edculo<\/span>-estimulante (FSH), hormona luteinizante (LH) y prolactina. Tambi\u00e9n es crucial medir la hormona adrenocorticotr\u00f3pica (ACTH), la actividad de renina en <span class=\"term\" data-term-id=\"1513\">plasma<\/span>, los niveles de electrolitos y realizar un hemograma completo.<\/p>\n<p>Adicionalmente, se pueden tomar hisopos y raspados cut\u00e1neos para buscar la presencia de <em>Candida albicans<\/em>, un signo clave en el diagn\u00f3stico.<\/p>\n<div id=\"square-placement-country-holder\" class=\"country-dependent advert\">\n<div class=\"box-placement square-placement\">\n<div class=\"advert__frame\">\n            <!-- \/340621630\/dermnet_mobile_after4sections_300x250' --><\/p>\n<div style=\"display: none;\" id=\"hidden-div-gpt-ad-1484122037505-9\" class=\"[ js-hideable ]\"><\/div>\n<p>            <script>\n                if (ads_screenwidth < 780 ) {\n                    var inline = document.createElement(\"div\");\n                    var ad = document.createElement(\"div\");\n\n                    ad.id = 'div-gpt-ad-1484122037505-9';\n                    ad.style.height=\"250px\";\n                    ad.style.width=\"300px;\";\n\n                    inline.appendChild(ad);\n                    inline.className = \"inline\";\n                    var placeholder = document.getElementById(\"hidden-div-gpt-ad-1484122037505-9\");\n                    placeholder.parentNode.replaceChild(inline, placeholder);\n                    (function () {\n                        googletag.cmd.push(function () {\n                            googletag.display('div-gpt-ad-1484122037505-9');\n                        });\n                    })();\n                }\n            <\/script>\n        <\/div>\n<\/p><\/div>\n<\/div>\n<h2>Tratamiento para el S\u00edndrome Poliglandular Autoinmune Tipo 1<\/h2>\n<p>El esquema de tratamiento para el APS1 se personaliza rigurosamente en funci\u00f3n de las manifestaciones endocrinas y cut\u00e1neas espec\u00edficas que presente el paciente.<\/p>\n<ul>\n<li>La candidiasis mucocut\u00e1nea cr\u00f3nica se maneja mediante la administraci\u00f3n de agentes antimic\u00f3ticos orales, como fluconazol o itraconazol.<\/li>\n<li>El hipoparatiroidismo requiere reemplazo hormonal constante con una dieta ajustada y la administraci\u00f3n de calcio oral junto con vitamina D activa (generalmente calcitriol).<\/li>\n<li>La enfermedad de Addison se aborda con terapia de reemplazo de por vida utilizando <span class=\"term\" data-term-id=\"2010\">corticosteroides<\/span> y mineralocorticoides. En casos de insuficiencia suprarrenal severa, incluso podr\u00edan considerarse trasplantes de la <span class=\"term\" data-term-id=\"2388\">gl\u00e1ndula<\/span> suprarrenal.<\/li>\n<\/ul>\n<h2>Evoluci\u00f3n y Pron\u00f3stico del APS Tipo 1<\/h2>\n<p>El <span class=\"term\" data-term-id=\"241\">pron\u00f3stico<\/span> asociado al S\u00edndrome Poliglandular Autoinmune tipo 1 es considerablemente variable. No obstante, gracias a los avances en el manejo de las deficiencias hormonales, las tasas de supervivencia han mostrado una marcada mejor\u00eda desde las estad\u00edsticas registradas en la d\u00e9cada de 1970. El monitoreo y el tratamiento sustitutivo oportunos son fundamentales para garantizar la mejor calidad de vida posible a largo plazo.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>\u00ab`html S\u00edndrome Poliglandular Autoinmune Tipo 1 (APS1): Definici\u00f3n y Caracter\u00edsticas El s\u00edndrome poliglandular autoinmune tipo 1 (APS1) es una afecci\u00f3n autoinmune compleja que provoca insuficiencia en m\u00faltiples endocrino gl\u00e1ndulas. Esta condici\u00f3n es conocida por varios sin\u00f3nimos, incluyendo s\u00edndrome poliendocrino autoinmune tipo 1, poliendocrinopat\u00eda-candidiasis\u2013ectod\u00e9rmico distrofia (APECED), s\u00edndrome de Whitaker y candidiasis-hipoparatiroidismo-s\u00edndrome de la enfermedad de Addison. [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":356,"parent":0,"template":"","glossary-cat":[],"class_list":["post-352","glossary","type-glossary","status-publish","has-post-thumbnail","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO Premium plugin v26.2 (Yoast SEO v27.1.1) - https:\/\/yoast.com\/product\/yoast-seo-premium-wordpress\/ -->\n<title>S\u00edndrome poliglandular autoinmune tipo 1 - Dermatly.com - El sitio de tu piel<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/dermatly.com\/nl\/polyglandulair-auto-immuunsyndroom-type-1\/\" \/>\n<meta property=\"og:locale\" content=\"nl_NL\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"S\u00edndrome poliglandular autoinmune tipo 1\" \/>\n<meta property=\"og:description\" content=\"\u00ab`html S\u00edndrome Poliglandular Autoinmune Tipo 1 (APS1): Definici\u00f3n y Caracter\u00edsticas El s\u00edndrome poliglandular autoinmune tipo 1 (APS1) es una afecci\u00f3n autoinmune compleja que provoca insuficiencia en m\u00faltiples endocrino gl\u00e1ndulas. Esta condici\u00f3n es conocida por varios sin\u00f3nimos, incluyendo s\u00edndrome poliendocrino autoinmune tipo 1, poliendocrinopat\u00eda-candidiasis\u2013ectod\u00e9rmico distrofia (APECED), s\u00edndrome de Whitaker y candidiasis-hipoparatiroidismo-s\u00edndrome de la enfermedad de Addison. 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Esta condici\u00f3n es conocida por varios sin\u00f3nimos, incluyendo s\u00edndrome poliendocrino autoinmune tipo 1, poliendocrinopat\u00eda-candidiasis\u2013ectod\u00e9rmico distrofia (APECED), s\u00edndrome de Whitaker y candidiasis-hipoparatiroidismo-s\u00edndrome de la enfermedad de Addison. 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