{"id":2810,"date":"2022-10-01T21:23:37","date_gmt":"2022-10-01T21:23:37","guid":{"rendered":"https:\/\/neuropediatoolbox.org\/?p=2810"},"modified":"2023-12-29T18:31:01","modified_gmt":"2023-12-29T18:31:01","slug":"estirando-de-la-cuerda-cuando-el-diagnostico-no-llega-a-la-primera","status":"publish","type":"post","link":"https:\/\/neuropediatoolkit.org\/en\/estirando-de-la-cuerda-cuando-el-diagnostico-no-llega-a-la-primera\/","title":{"rendered":"Pulling the rope. What to do when a diagnosis is not reached."},"content":{"rendered":"\n<p>Nos encontramos evaluando a un ni\u00f1o con un trastorno del neurodesarrollo, en el que sospechamos la existencia de una causa gen\u00e9tica porque presenta datos sugerentes al respecto (malformaciones cong\u00e9nitas m\u00faltiples asociadas, por ejemplo). Hemos realizado un <a href=\"http:\/\/neuropediatoolkit.org\/criterios-de-realizacion-de-acgh\/\">aCGH<\/a> que ha resultado ser normal. Tambi\u00e9n hemos realizado un <a href=\"http:\/\/neuropediatoolkit.org\/tecnicas-de-secuenciacion-masiva\/\">exoma cl\u00ednico (mendelioma)<\/a> que no nos ha aportado informaci\u00f3n concluyente. \u00bfPor donde continuamos?<\/p>\n\n\n\n<div id=\"wp-block-themeisle-blocks-accordion-8b346215\" class=\"wp-block-themeisle-blocks-accordion\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Reeval\u00faa las variantes de significado incierto.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><a href=\"http:\/\/neuropediatoolkit.org\/evaluacion-de-las-variantes-de-significado-incierto-vsi\/\">Puede que exista la posibilidad de reclasificarlas, revisa la gu\u00eda al respecto.<\/a><\/p>\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>Revisa los ap\u00e9ndices del estudio gen\u00e9tico en busca de informaci\u00f3n relevante.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>Puede que el genetista haya identificado una variante patog\u00e9nica en un <strong>gen recesivo<\/strong>, que sea compatible con tu sospecha cl\u00ednica, pero al no encontrar una segunda variante patog\u00e9nica, no lo ha reportado en el cuerpo de texto principal. Si el fenotipo es congruente con la sospecha cl\u00ednica, quiz\u00e1 tengas que proseguir investigando: <\/p>\n\n\n\n<div id=\"wp-block-themeisle-blocks-accordion-3bf037a1\" class=\"wp-block-themeisle-blocks-accordion\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Aseg\u00farate de que no exista una variante de significado incierto en el otro alelo.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>Para confirmarlo es necesario realizar un estudio de cosegregaci\u00f3n de ambos padres, en caso de que ambas variantes se encuentren en trans, tu diagn\u00f3stico de sospecha se ver\u00e1 reforzado. <\/p>\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>Revisa la existencia de biomarcadores.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>En caso de que el gen autos\u00f3mico recesivo disponga de <a href=\"http:\/\/neuropediatoolkit.org\/vademecum-metabolicum\/\">biomarcadores<\/a> que permitan su estudio, puede ser una estrategia eficiente realizar un estudio dirigido (enzim\u00e1tico, bioqu\u00edmico) y en caso de detectar anormalidades, realizar pruebas diagn\u00f3sticas m\u00e1s sofisticadas (secuenciaci\u00f3n del RNA) en busca de mutaciones intr\u00f3nicas profundas. <\/p>\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>Valora la posibilidad de realizar un MLPA del gen afectado.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>Pueden combinarse varios mecanismos mutacionales (<a href=\"https:\/\/en.wikipedia.org\/wiki\/Compound_heterozygosity\">heterocigosis compuesta<\/a>), ten en cuenta que las <a href=\"http:\/\/neuropediatoolkit.org\/delecciones-intragenicas-exon-level-deletions\/\">delecciones de peque\u00f1o tama\u00f1o<\/a> pueden haber pasado desapercibidas en ambas pruebas (exoma y aCGH). <\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img fetchpriority=\"high\" decoding=\"async\" width=\"685\" height=\"499\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/image-29.png\" alt=\"\" class=\"wp-image-2815\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-29.png 685w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-29-300x219.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-29-16x12.png 16w\" sizes=\"(max-width: 685px) 100vw, 685px\" \/><figcaption>https:\/\/bmcmedgenomics.biomedcentral.com\/articles\/10.1186\/s12920-021-01053-3<\/figcaption><\/figure>\n\n\n\n<p><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC3759716\/\">https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC3759716\/<\/a><\/p>\n<\/div><\/details>\n<\/div>\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>Revisa la posibilidad de que se trate de una enfermedad no diagnosticable por secuenciaci\u00f3n.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>Existen algunas <a href=\"https:\/\/neuropediatoolkit.org\/enfermedades-no-diagnosticables-por-secuenciacion\/\">enfermedades gen\u00e9ticas no diagnosticables por secuenciaci\u00f3n del exoma<\/a> con la tecnolog\u00eda disponible actualmente. Si el fenotipo es compatible con alguna de ellas, puede ser necesario solicitar pruebas diagn\u00f3sticas espec\u00edficas. <\/p>\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>Reeval\u00faa el fenotipo cada cierto tiempo en busca de nuevos s\u00edntomas orientadores.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>Puedes tratar de <a href=\"http:\/\/neuropediatoolkit.org\/human-phenotype-ontology\/\">refinar tu descripci\u00f3n fenot\u00edpica<\/a> utilizando los c\u00f3digos del HPO. De esta forma facilitaras la aplicaci\u00f3n de filtros inform\u00e1ticos por parte del genetista para el rean\u00e1lisis de los datos.<\/p>\n\n\n\n<p>Con la descripci\u00f3n fenot\u00edpica a trav\u00e9s de los c\u00f3digos HPO puedes utilizar herramientas de diagn\u00f3stico diferencial informatizadas, como <a href=\"http:\/\/neuropediatoolkit.org\/phenomyzer\/\">phenomyzer<\/a>.<\/p>\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>Solicita a tu genetista que reanalice los datos brutos de secuenciaci\u00f3n tras 2-5 a\u00f1os si no lo ha hecho autom\u00e1ticamente. <\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>Existen m\u00faltiples publicaciones cient\u00edficas que demuestran un incremento de entre el 10-15% de la rentabilidad diagnostica mediante el rean\u00e1lisis de los datos de secuenciaci\u00f3n a los 12-24 meses de su realizaci\u00f3n. Esto es consecuencia de la r\u00e1pida acumulaci\u00f3n de conocimiento cient\u00edfico que est\u00e1 produci\u00e9ndose: <\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>El descubrimiento de nuevos genes patog\u00e9nicos.<\/li><li>La clarificaci\u00f3n de la patogenicidad de variantes previamente no involucradas en enfermedad.<\/li><li>El refinamiento de las variantes poblacionales en el genoma de referencia (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/grc\">Genome Reference Consortium<\/a>). <\/li><li>Los estudios de cosegregaci\u00f3n realizados en otras familias. <\/li><li>La mejora t\u00e9cnica en la aplicaci\u00f3n de filtros en el procesamiento de datos bioinform\u00e1ticos (estudio de CNV a partir de los datos de secuenciaci\u00f3n, por ejemplo).<\/li><\/ul>\n\n\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"624\" height=\"1024\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/image-36-624x1024.png\" alt=\"\" class=\"wp-image-2914\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-36-624x1024.png 624w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-36-183x300.png 183w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-36-768x1260.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-36-7x12.png 7w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-36.png 800w\" sizes=\"(max-width: 624px) 100vw, 624px\" \/><figcaption>https:\/\/www.nejm.org\/doi\/full\/10.1056\/NEJMc1812033<\/figcaption><\/figure>\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>Valora la posibilidad de realizar una secuenciaci\u00f3n del exoma en tr\u00edo (investigaci\u00f3n).<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>La <a href=\"http:\/\/neuropediatoolkit.org\/tecnicas-de-secuenciacion-masiva\/\">secuenciaci\u00f3n del exoma en tr\u00edo<\/a> (caso \u00edndice, padre, madre) permite cruzar los datos de los familiares para aplicar filtros que eliminen las variantes gen\u00e9ticas poco frecuentes que hayan sido heredadas, en busca de variantes de novo en genes a\u00fan no estudiados por completo que puedan ser candidatas a explicar el fenotipo. Es una t\u00e9cnica que da su mayor potencial cuando se aplica de forma sistem\u00e1tica en el contexto de un proyecto de investigaci\u00f3n, puesto que permite descubrir nuevos genes involucrados en enfermedad y demostrar su patogenicidad a trav\u00e9s de t\u00e9cnicas experimentales.<\/p>\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>Inicia una investigaci\u00f3n en red con otros profesionales.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>La <a href=\"https:\/\/undiagnosed.hms.harvard.edu\/\">Undiagnosed Diseases Network<\/a> es una red de investigaci\u00f3n de enfermedades sin diagn\u00f3stico, en la que participan profesionales de varios pa\u00edses y que act\u00faa como facilitadora en la investigaci\u00f3n de enfermedades raras. Existe una sede espa\u00f1ola que depende del ISCIII, y se llama <a href=\"https:\/\/spainudp.isciii.es\/\">SPAINUDP<\/a>.<\/p>\n<\/div><\/details>\n<\/div>\n\n\n\n<figure class=\"wp-block-image size-full\"><img decoding=\"async\" width=\"685\" height=\"381\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-9.png\" alt=\"\" class=\"wp-image-2899\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-9.png 685w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-9-300x167.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-9-18x10.png 18w\" sizes=\"(max-width: 685px) 100vw, 685px\" \/><figcaption><div id=\"zotpress-c97f3016485461862dbdde0739ef8243\" 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:FTGW32SA}<\/span>\n\t\t<span class=\"ZP_COLLECTION_ID 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id=\"zp-ID-2810-332710-FTGW32SA\" data-zp-author-date='Marwaha-et-al.-2022-02-28' data-zp-date-author='2022-02-28-Marwaha-et-al.' data-zp-date='2022-02-28' data-zp-year='2022' 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;\">Marwaha S, Knowles JW, Ashley EA. A guide for the diagnosis of rare and undiagnosed disease: beyond the exome. Genome Medicine [Internet]. 2022 Feb 28 [cited 2022 Oct 3];14(1):23. Available from: <a class='zp-ItemURL' href='https:\/\/doi.org\/10.1186\/s13073-022-01026-w'>https:\/\/doi.org\/10.1186\/s13073-022-01026-w<\/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<\/figcaption><\/figure>\n","protected":false},"excerpt":{"rendered":"<p>Nos encontramos evaluando a un ni\u00f1o con un trastorno del neurodesarrollo, en el que sospechamos la existencia de una causa gen\u00e9tica porque presenta datos sugerentes al respecto (malformaciones cong\u00e9nitas m\u00faltiples asociadas, por ejemplo). Hemos realizado un aCGH que ha resultado ser normal. Tambi\u00e9n hemos realizado un exoma cl\u00ednico (mendelioma) que no nos ha aportado informaci\u00f3n &hellip; <\/p>\n<p class=\"link-more\"><a href=\"https:\/\/neuropediatoolkit.org\/en\/estirando-de-la-cuerda-cuando-el-diagnostico-no-llega-a-la-primera\/\" class=\"more-link\">Continue reading<span class=\"screen-reader-text\"> \u00abEstirando de la cuerda. Cuando el diagn\u00f3stico no llega a la primera.\u00bb<\/span><\/a><\/p>","protected":false},"author":1,"featured_media":2811,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_themeisle_gutenberg_block_has_review":false,"footnotes":""},"categories":[10],"tags":[],"class_list":["post-2810","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-neurogenetica","entry"],"_links":{"self":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/2810","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=2810"}],"version-history":[{"count":9,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/2810\/revisions"}],"predecessor-version":[{"id":7041,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/2810\/revisions\/7041"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media\/2811"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media?parent=2810"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/categories?post=2810"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/tags?post=2810"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}