{"id":944,"date":"2022-07-20T11:09:39","date_gmt":"2022-07-20T09:09:39","guid":{"rendered":"https:\/\/neuropediatoolbox.wordpress.com\/?p=944"},"modified":"2023-12-29T18:32:42","modified_gmt":"2023-12-29T18:32:42","slug":"protocolo-de-causas-tratables","status":"publish","type":"post","link":"https:\/\/neuropediatoolkit.org\/en\/protocolo-de-causas-tratables\/","title":{"rendered":"Protocolo de causas tratables."},"content":{"rendered":"\n<p class=\"has-link-color wp-elements-bf6eb60aa5f80401e4934fb50a450445\">En nuestro contexto geogr\u00e1fico, se ofrece a todos los reci\u00e9n nacidos la realizaci\u00f3n de la prueba del tal\u00f3n o <a href=\"http:\/\/neuropediatoolkit.org\/programa-del-cribado-neonatal\/\">cribado neonatal de enfermedades cong\u00e9nitas<\/a>, que en el momento actual en la Comunidad Valenciana incluye 10 enfermedades.<\/p>\n\n\n\n<p>La gu\u00eda cl\u00ednica de diagn\u00f3stico del retraso global del desarrollo y discapacidad intelectual de la Academia Americana de Neurolog\u00eda y de la Academia Americana de Pediatr\u00eda, no recomendaban en su gu\u00eda de 2006 la realizaci\u00f3n de forma sistem\u00e1tica de estudios metab\u00f3licos en los ni\u00f1os con retraso global del desarrollo, ya que su rentabilidad diagn\u00f3stica era del 1-5%. No obstante, en la revisi\u00f3n de 2014 se cambi\u00f3 dicha recomendaci\u00f3n, y se incluy\u00f3 el estudio metab\u00f3lico en aquellos ni\u00f1os sin causa identificable, siguiendo el protocolo propuesto por van Karnebeeck, basado en 2 escalones:<\/p>\n\n\n\n<div id=\"wp-block-themeisle-blocks-accordion-82d00aa8\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>1\u00ba escal\u00f3n: Screening metab\u00f3lico no dirigido.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<ul class=\"wp-block-list\">\n<li>Sangre:\n<ul class=\"wp-block-list\">\n<li>Lactato.<\/li>\n\n\n\n<li>Amonio.<\/li>\n\n\n\n<li>Amino\u00e1cidos.<\/li>\n\n\n\n<li>Folato.<\/li>\n\n\n\n<li>Sialotransferrinas.<\/li>\n\n\n\n<li>Cobre y celuloplasmina.<\/li>\n\n\n\n<li>Homociste\u00edna total.<\/li>\n\n\n\n<li>Acilcarnitinas.<\/li>\n\n\n\n<li>VLCFA.<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>Orina:\n<ul class=\"wp-block-list\">\n<li>Acidos org\u00e1nicos.<\/li>\n\n\n\n<li>Creatina y GAA.<\/li>\n\n\n\n<li>Glucosaminglicanos.<\/li>\n\n\n\n<li>Oligosac\u00e1ridos.<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>2\u00ba escal\u00f3n: Screening metab\u00f3lico dirigido.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<ul class=\"wp-block-list\">\n<li>LCR:\n<ul class=\"wp-block-list\">\n<li>Neurotransmisores.<\/li>\n\n\n\n<li>Amino\u00e1cidos.<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>Sangre:\n<ul class=\"wp-block-list\">\n<li>Esteroles.<\/li>\n\n\n\n<li><a href=\"http:\/\/neuropediatoolkit.org\/tests-de-cribado-dirigido\/\">Estudios enzim\u00e1ticos espec\u00edficos<\/a>.<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>Orina:\n<ul class=\"wp-block-list\">\n<li>Purinas y pirimidinas.<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<\/div><\/details>\n<\/div>\n\n\n\n<div id=\"wp-block-themeisle-blocks-accordion-640ad91c\" class=\"wp-block-themeisle-blocks-accordion exclusive\"><\/div>\n\n\n\n<p>No obstante, tambi\u00e9n puede orientarse a qu\u00e9 pacientes realizar un estudio metab\u00f3lico a partir de la presencia de determinados datos de la historia cl\u00ednica o caracter\u00edsticas exploratorias que incrementan la probabilidad de una metabolopat\u00eda (<a href=\"http:\/\/neuropediatoolkit.org\/cuando-sospechar-un-error-congenito-del-metabolismo\/\">\u00bfcuando sospechar una metabolopat\u00eda?<\/a>).<\/p>\n\n\n\n<p>En la web<a href=\"http:\/\/neuropediatoolkit.org\/treatable-id\/\"> Treatable ID<\/a> puede buscarse informaci\u00f3n para orientar de forma m\u00e1s adecuada el estudio apropiado. <\/p>\n\n\n\n<p>En la web <a href=\"http:\/\/neuropediatoolkit.org\/vademecum-metabolicum\/\">Vademecum Metab\u00f3licum<\/a>, existe un compendio de acceso libre sobre todos los errores cong\u00e9nitos del metabolismo. <\/p>\n\n\n\n<div id=\"wp-block-themeisle-blocks-accordion-21e57412\" class=\"wp-block-themeisle-blocks-accordion exclusive\"><\/div>\n\n\n<div id=\"zotpress-c04f6060106bb67fdc942eb6e2d251bd\" class=\"zp-Zotpress zp-Zotpress-Bib wp-block-group\">\n\n\t\t<span class=\"ZP_API_USER_ID ZP_ATTR\">332710<\/span>\n\t\t<span class=\"ZP_ITEM_KEY ZP_ATTR\">{332710:SEVSBACT}<\/span>\n\t\t<span class=\"ZP_COLLECTION_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TAG_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_AUTHOR ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_YEAR ZP_ATTR\"><\/span>\n        <span class=\"ZP_ITEMTYPE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_INCLUSIVE ZP_ATTR\">1<\/span>\n\t\t<span class=\"ZP_STYLE ZP_ATTR\">vancouver<\/span>\n\t\t<span class=\"ZP_LIMIT ZP_ATTR\">50<\/span>\n\t\t<span class=\"ZP_SORTBY ZP_ATTR\">default<\/span>\n\t\t<span class=\"ZP_ORDER ZP_ATTR\"><\/span>\n\t\t<span 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id=\"zp-ID-944-332710-SEVSBACT\" data-zp-author-date='Moeschler-et-al.-2014-09-01' data-zp-date-author='2014-09-01-Moeschler-et-al.' data-zp-date='2014-09-01' data-zp-year='2014' data-zp-itemtype='journalArticle' class=\"zp-Entry zpSearchResultsItem\">\n<div class=\"csl-bib-body\" style=\"line-height: 1.35; \">\n  <div class=\"csl-entry\" style=\"clear: left; \">\n    <div class=\"csl-left-margin\" style=\"float: left; padding-right: 0.5em; text-align: right; width: 1em;\">1.<\/div><div class=\"csl-right-inline\" style=\"margin: 0 .4em 0 1.5em;\">Moeschler JB, Shevell M, Moeschler JB, Shevell M, Saul RA, Chen E, et al. Comprehensive Evaluation of the Child With Intellectual Disability or Global Developmental Delays. Pediatrics [Internet]. 2014 Sept 1 [cited 2015 June 29];134(3):e903\u201318. Available from: <a class='zp-ItemURL' href='http:\/\/pediatrics.aappublications.org\/content\/134\/3\/e903'>http:\/\/pediatrics.aappublications.org\/content\/134\/3\/e903<\/a><\/div>\n  <\/div>\n<\/div>\n\t\t\t\t<\/div><!-- .zp-Entry .zpSearchResultsItem -->\n\t\t\t<\/div><!-- .zp-zp-SEO-Content -->\n\t\t<\/div><!-- .zp-List -->\n\t<\/div><!--.zp-Zotpress-->\n\n\n","protected":false},"excerpt":{"rendered":"<p>En nuestro contexto geogr\u00e1fico, se ofrece a todos los reci\u00e9n nacidos la realizaci\u00f3n de la prueba del tal\u00f3n o cribado neonatal de enfermedades cong\u00e9nitas, que en el momento actual en la Comunidad Valenciana incluye 10 enfermedades. La gu\u00eda cl\u00ednica de diagn\u00f3stico del retraso global del desarrollo y discapacidad intelectual de la Academia Americana de Neurolog\u00eda &hellip; <\/p>\n<p class=\"link-more\"><a href=\"https:\/\/neuropediatoolkit.org\/en\/protocolo-de-causas-tratables\/\" class=\"more-link\">Continue reading<span class=\"screen-reader-text\"> \u00abProtocolo de causas tratables.\u00bb<\/span><\/a><\/p>","protected":false},"author":1,"featured_media":960,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_themeisle_gutenberg_block_has_review":false,"footnotes":""},"categories":[7],"tags":[],"class_list":["post-944","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-metabolismo","entry"],"_links":{"self":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/944","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/comments?post=944"}],"version-history":[{"count":6,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/944\/revisions"}],"predecessor-version":[{"id":7056,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/944\/revisions\/7056"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media\/960"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media?parent=944"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/categories?post=944"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/tags?post=944"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}