{"id":6318,"date":"2024-10-30T18:47:55","date_gmt":"2024-10-30T17:47:55","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?page_id=6318"},"modified":"2025-04-04T14:57:51","modified_gmt":"2025-04-04T12:57:51","slug":"beckwith-wiedemann-guideline","status":"publish","type":"page","link":"https:\/\/ern-ithaca.eu\/es\/guidelines\/ern-ithaca-guidelines\/beckwith-wiedemann-guideline\/","title":{"rendered":"Gu\u00eda sobre el s\u00edndrome de Beckwith-Wiedemann"},"content":{"rendered":"<p class=\"has-vivid-cyan-blue-color has-text-color has-link-color wp-elements-1 wp-block-paragraph\"><em><strong>Esta recomendaci\u00f3n se ajusta a los \u00faltimos resultados de investigaci\u00f3n disponibles a fecha de abril de 2018.<\/strong><\/em><\/p>\n\n\n\n<h4 class=\"wp-block-heading\" id=\"background-1\">Antecedentes<\/h4>\n\n\n\n<p class=\"wp-block-paragraph\">El s\u00edndrome de Beckwith-Wiedemann (BWS), un trastorno de impronta gen\u00f3mica humana, se caracteriza por una variabilidad fenot\u00edpica que puede incluir hipercrecimiento, macroglosia, defectos de la pared abdominal, hipoglucemia neonatal, hipercrecimiento lateralizado y predisposici\u00f3n a tumores embrionarios. La identificaci\u00f3n de los defectos moleculares en la regi\u00f3n impresa 11p15.5 permite predecir los riesgos de recurrencia familiar y el riesgo (y el tipo) de tumor embrionario. A pesar de los recientes avances en el conocimiento, existe una marcada heterogeneidad en los criterios de diagn\u00f3stico cl\u00ednico y en la atenci\u00f3n sanitaria. Tal y como se detalla en esta Declaraci\u00f3n de Consenso, un grupo de consenso internacional acord\u00f3 72 recomendaciones para el diagn\u00f3stico cl\u00ednico y molecular y el manejo del s\u00edndrome de Beckwith-Wiedemann (BWS), incluidos protocolos exhaustivos para la investigaci\u00f3n molecular, la atenci\u00f3n y el tratamiento de los pacientes desde el periodo prenatal hasta la edad adulta. Las recomendaciones del consenso se aplican a los pacientes del espectro de Beckwith-Wiedemann (BWSp), lo que abarca el s\u00edndrome de Beckwith-Wiedemann cl\u00e1sico sin diagn\u00f3stico molecular y los fenotipos relacionados con el s\u00edndrome de Beckwith-Wiedemann que presentan una anomal\u00eda molecular en 11p15.5. Aunque el grupo de consenso recomienda un programa de vigilancia tumoral dirigido a subgrupos moleculares, dicha vigilancia podr\u00eda variar en funci\u00f3n del sistema sanitario local (por ejemplo, en Estados Unidos), y los resultados de la vigilancia dirigida y universal deber\u00edan evaluarse de forma prospectiva. Se requiere una colaboraci\u00f3n internacional, que incluya una auditor\u00eda prospectiva de los resultados de la aplicaci\u00f3n de estas recomendaciones consensuadas, para ampliar la base de pruebas que permita dise\u00f1ar v\u00edas de atenci\u00f3n \u00f3ptimas.<\/p>\n\n\n\n<div style=\"height:62px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h4 class=\"wp-block-heading\" id=\"methods-1\">M\u00e9todos<\/h4>\n\n\n\n<p class=\"wp-block-paragraph\">Una b\u00fasqueda en PubMed utilizando las palabras clave \u201cBeckwith Wiedemann\u201d, \u201cWiedemann Beckwith\u201d o \u201cs\u00edndrome EMG\u201d arroj\u00f3 art\u00edculos de inter\u00e9s que se seleccionaron a partir de los res\u00famenes, prestando especial atenci\u00f3n al n\u00famero de pacientes incluidos y a la descripci\u00f3n de los mecanismos moleculares. Solo se conservaron los art\u00edculos que mencionaban los mecanismos moleculares. A continuaci\u00f3n, los art\u00edculos fueron revisados por al menos dos expertos y clasificados en tres grupos: diagn\u00f3stico cl\u00ednico (grupo 1); diagn\u00f3stico molecular (grupo 2); y manejo cl\u00ednico (grupo 3).<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">El grupo de consenso internacional sobre el s\u00edndrome de BWS estaba compuesto por 41 participantes de 36 instituciones de 11 pa\u00edses, principalmente de Europa, entre los que se encontraban m\u00e9dicos, investigadores cl\u00ednicos y cient\u00edficos, as\u00ed como representantes de asociaciones de pacientes con experiencia en diferentes aspectos del s\u00edndrome de BWS (genetistas cl\u00ednicos y moleculares, endocrin\u00f3logos pedi\u00e1tricos, onc\u00f3logos, ortopedistas, cirujanos orofaciales y nefr\u00f3logos). Se adopt\u00f3 un proceso de consenso Delphi modificado<sup><a href=\"https:\/\/www.nature.com\/articles\/nrendo.2017.166#ref-CR4\">4<\/a><\/sup>. Las conversaciones se llevaron a cabo mediante conferencias telef\u00f3nicas, comunicaciones por correo electr\u00f3nico e intercambio de archivos. Se celebraron dos reuniones presenciales: una reuni\u00f3n preliminar con 11 participantes (entre ellos, un representante de un grupo de pacientes) en febrero de 2016 para identificar las cuestiones clave que deb\u00eda abordar el grupo de consenso, y una reuni\u00f3n plenaria de tres d\u00edas en la que participaron 35 personas (entre ellas, dos representantes de grupos de pacientes) en marzo de 2017. Durante esta reuni\u00f3n plenaria, los expertos participaron en uno de los tres subgrupos (cl\u00ednico, molecular o de gesti\u00f3n) en funci\u00f3n de su \u00e1mbito de especializaci\u00f3n, debatieron los borradores de los documentos de consenso y formularon y votaron las recomendaciones de consenso (<a href=\"https:\/\/www.nature.com\/articles\/nrendo.2017.166#Sec3\">Recuadro 1<\/a>). Esta declaraci\u00f3n de consenso resume el resultado de estos debates y se divide en tres \u00e1reas tem\u00e1ticas: aspectos cl\u00ednicos; aspectos moleculares; y atenci\u00f3n y tratamiento.<\/p>\n\n\n\n<div style=\"height:62px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h4 class=\"wp-block-heading\" id=\"conclusion-1\">Conclusi\u00f3n<\/h4>\n\n\n\n<p class=\"wp-block-paragraph\">Las recomendaciones del primer grupo internacional de consenso sobre el s\u00edndrome de BWS, descritas en esta Declaraci\u00f3n de Consenso, proporcionan un marco para mejorar el diagn\u00f3stico y el tratamiento del s\u00edndrome de BWS. Dado que el s\u00edndrome de BWS se caracteriza por una gen\u00e9tica compleja y fenotipos multisist\u00e9micos variables, es importante que se designe a un m\u00e9dico responsable para cada paciente (<a href=\"https:\/\/www.nature.com\/articles\/nrendo.2017.166#Tab4\">Tabla 4<\/a>, R22) para garantizar la coordinaci\u00f3n de los numerosos aspectos de la atenci\u00f3n a lo largo de la infancia (<a href=\"https:\/\/www.nature.com\/articles\/nrendo.2017.166#MOESM22\">Informaci\u00f3n complementaria S5 (tabla)<\/a>). Las v\u00edas de diagn\u00f3stico y atenci\u00f3n propuestas pretenden ser pr\u00e1cticas y rentables (por ejemplo, centrar la vigilancia tumoral en los grupos de alto riesgo deber\u00eda reducir los costes en comparaci\u00f3n con las estrategias de vigilancia universal). No obstante, en algunos sistemas sanitarios y entornos m\u00e9dico-legales, podr\u00eda ser necesaria m\u00e1s evidencia para cambiar la pr\u00e1ctica cl\u00ednica (por ejemplo, la vigilancia tumoral en Am\u00e9rica del Norte). Por lo tanto, es importante que la aplicaci\u00f3n de estas recomendaciones consensuadas vaya acompa\u00f1ada de auditor\u00edas prospectivas con el fin de ampliar la base emp\u00edrica para futuras iniciativas de consenso.<\/p>\n\n\n\n<div style=\"height:62px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h4 class=\"wp-block-heading\" id=\"reference-1\">Referencia<\/h4>\n\n\n\n<p class=\"wp-block-paragraph\">Brioude, F., Kalish, J., Mussa, A.&nbsp;<em>et al.<\/em>&nbsp;Diagn\u00f3stico cl\u00ednico y molecular, cribado y tratamiento del s\u00edndrome de Beckwith-Wiedemann: declaraci\u00f3n de consenso internacional.&nbsp;<em>Nat Rev Endocrinol<\/em>&nbsp;<strong>14,&nbsp;<\/strong>229\u2013249 (2018).&nbsp;<a href=\"https:\/\/doi.org\/10.1038\/nrendo.2017.166\">https:\/\/doi.org\/10.1038\/nrendo.2017.166<\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><a href=\"https:\/\/www.nature.com\/articles\/nrendo.2017.166.pdf\"><strong>Consulta la publicaci\u00f3n completa en Nature<\/strong><\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>","protected":false},"excerpt":{"rendered":"<p>This recommendation is aligned with the latest research findings available as of April 2018. Background Beckwith\u2013Wiedemann syndrome (BWS), a human genomic imprinting disorder, is characterized by phenotypic variability that might include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralized overgrowth and predisposition to embryonal tumours. Delineation of the molecular defects within the imprinted 11p15.5 region [&hellip;]<\/p>\n","protected":false},"author":253,"featured_media":0,"parent":97,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"footnotes":""},"class_list":["post-6318","page","type-page","status-publish","hentry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.7 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Beckwith\u2013Wiedemann Guideline - ERN ITHACA<\/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:\/\/ern-ithaca.eu\/es\/guidelines\/ern-ithaca-guidelines\/beckwith-wiedemann-guideline\/\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Beckwith\u2013Wiedemann Guideline - ERN ITHACA\" \/>\n<meta property=\"og:description\" content=\"This recommendation is aligned with the latest research findings available as of April 2018. Background Beckwith\u2013Wiedemann syndrome (BWS), a human genomic imprinting disorder, is characterized by phenotypic variability that might include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralized overgrowth and predisposition to embryonal tumours. Delineation of the molecular defects within the imprinted 11p15.5 region [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/ern-ithaca.eu\/es\/guidelines\/ern-ithaca-guidelines\/beckwith-wiedemann-guideline\/\" \/>\n<meta property=\"og:site_name\" content=\"ERN ITHACA\" \/>\n<meta property=\"article:modified_time\" content=\"2025-04-04T12:57:51+00:00\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:site\" content=\"@ERNIthaca\" \/>\n<meta name=\"twitter:label1\" content=\"Tiempo de lectura\" \/>\n\t<meta name=\"twitter:data1\" content=\"3 minutos\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/guidelines\\\/ern-ithaca-guidelines\\\/beckwith-wiedemann-guideline\\\/\",\"url\":\"https:\\\/\\\/ern-ithaca.eu\\\/guidelines\\\/ern-ithaca-guidelines\\\/beckwith-wiedemann-guideline\\\/\",\"name\":\"Beckwith\u2013Wiedemann Guideline - ERN ITHACA\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/#website\"},\"datePublished\":\"2024-10-30T17:47:55+00:00\",\"dateModified\":\"2025-04-04T12:57:51+00:00\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/guidelines\\\/ern-ithaca-guidelines\\\/beckwith-wiedemann-guideline\\\/#breadcrumb\"},\"inLanguage\":\"es\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/ern-ithaca.eu\\\/guidelines\\\/ern-ithaca-guidelines\\\/beckwith-wiedemann-guideline\\\/\"]}]},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/guidelines\\\/ern-ithaca-guidelines\\\/beckwith-wiedemann-guideline\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/ern-ithaca.eu\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"Guidelines\",\"item\":\"https:\\\/\\\/ern-ithaca.eu\\\/guidelines\\\/\"},{\"@type\":\"ListItem\",\"position\":3,\"name\":\"ERN ITHACA Guidelines\",\"item\":\"https:\\\/\\\/ern-ithaca.eu\\\/guidelines\\\/ern-ithaca-guidelines\\\/\"},{\"@type\":\"ListItem\",\"position\":4,\"name\":\"Beckwith\u2013Wiedemann Guideline\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/#website\",\"url\":\"https:\\\/\\\/ern-ithaca.eu\\\/\",\"name\":\"ERN ITHACA\",\"description\":\"WELCOME TO ERN-ITHACA WEBSITE!\",\"publisher\":{\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/#organization\"},\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\\\/\\\/ern-ithaca.eu\\\/?s={search_term_string}\"},\"query-input\":{\"@type\":\"PropertyValueSpecification\",\"valueRequired\":true,\"valueName\":\"search_term_string\"}}],\"inLanguage\":\"es\"},{\"@type\":\"Organization\",\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/#organization\",\"name\":\"ERN-ITHACA\",\"url\":\"https:\\\/\\\/ern-ithaca.eu\\\/\",\"logo\":{\"@type\":\"ImageObject\",\"inLanguage\":\"es\",\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/#\\\/schema\\\/logo\\\/image\\\/\",\"url\":\"https:\\\/\\\/ern-ithaca.eu\\\/wp-content\\\/uploads\\\/2022\\\/02\\\/Logo-ERN-ITHACA.jpg\",\"contentUrl\":\"https:\\\/\\\/ern-ithaca.eu\\\/wp-content\\\/uploads\\\/2022\\\/02\\\/Logo-ERN-ITHACA.jpg\",\"width\":454,\"height\":172,\"caption\":\"ERN-ITHACA\"},\"image\":{\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/#\\\/schema\\\/logo\\\/image\\\/\"},\"sameAs\":[\"https:\\\/\\\/x.com\\\/ERNIthaca\",\"https:\\\/\\\/www.linkedin.com\\\/company\\\/ithaca-european-reference-network-on-congenital-malformations-ans-rare-intellectual-disability\\\/?viewAsMember=true\"]}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"Beckwith\u2013Wiedemann Guideline - ERN ITHACA","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/ern-ithaca.eu\/es\/guidelines\/ern-ithaca-guidelines\/beckwith-wiedemann-guideline\/","og_locale":"es_ES","og_type":"article","og_title":"Beckwith\u2013Wiedemann Guideline - ERN ITHACA","og_description":"This recommendation is aligned with the latest research findings available as of April 2018. Background Beckwith\u2013Wiedemann syndrome (BWS), a human genomic imprinting disorder, is characterized by phenotypic variability that might include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralized overgrowth and predisposition to embryonal tumours. 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