{"id":17620,"date":"2024-09-09T09:21:00","date_gmt":"2024-09-09T12:21:00","guid":{"rendered":"https:\/\/sergiolapegue.com\/site\/?p=17620"},"modified":"2024-09-05T12:24:20","modified_gmt":"2024-09-05T15:24:20","slug":"fibrosis-quistica-un-desafio-que-se-enfrenta-con-esperanza","status":"publish","type":"post","link":"https:\/\/sergiolapegue.com\/site\/2024\/09\/09\/fibrosis-quistica-un-desafio-que-se-enfrenta-con-esperanza\/","title":{"rendered":"Fibrosis Qu\u00edstica: Un desaf\u00edo que se enfrenta con esperanza"},"content":{"rendered":"\n<p class=\"wp-block-paragraph\">La fibrosis qu\u00edstica (FQ) es una enfermedad gen\u00e9tica que afecta principalmente a los pulmones y al sistema digestivo. Causada por una mutaci\u00f3n en un gen espec\u00edfico, esta enfermedad provoca la producci\u00f3n de un moco espeso y pegajoso que obstruye los \u00f3rganos, dificultando la respiraci\u00f3n y la digesti\u00f3n.<br><br>Desde 2007, la Ley Nacional 26.279 obliga a realizar la pesquisa neonatal, una prueba clave para el diagn\u00f3stico temprano de la enfermedad. Este procedimiento, que forma parte del programa de detecci\u00f3n en reci\u00e9n nacidos, permite identificar la presencia de una sustancia llamada tripsina, que suele estar elevada en pacientes con FQ. El diagn\u00f3stico tambi\u00e9n puede realizarse durante la gestaci\u00f3n mediante el &#8220;screening fetal&#8221;.<br><br>El diagn\u00f3stico preciso y temprano es vital para mejorar la calidad de vida de los pacientes. M\u00e9todos como el test del sudor o la secuenciaci\u00f3n del gen CFTR permiten hacer el diagn\u00f3stico, y este \u00faltimo detecta las variantes gen\u00e9ticas causantes de la enfermedad, lo que es esencial para su manejo adecuado.<br><br>La aprobaci\u00f3n de la Ley Nacional 27.552 representa un hito en la lucha contra la FQ en Argentina. Esta ley garantiza un abordaje integral bajo el Programa de Enfermedades Poco Frecuentes (EPoF), cubriendo aspectos clave como salud, trabajo, educaci\u00f3n, rehabilitaci\u00f3n, seguridad social y prevenci\u00f3n tanto para pacientes pedi\u00e1tricos como adultos.<br><br><strong>Fibrosis Qu\u00edstica en n\u00fameros<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Cerca del 60% de los casos son diagnosticados antes del primer a\u00f1o de vida, gracias a la pesquisa neonatal.<\/li>\n\n\n\n<li>Entre el 10% y el 15% de los pacientes son diagnosticados en la edad adulta, en general con formas mas leves de la enfermedad.<\/li>\n\n\n\n<li>En Argentina, la FQ afecta a uno de cada 7.000 nacimientos, y se calcula que m\u00e1s de 3.000 personas padecen esta enfermedad.<\/li>\n\n\n\n<li>Seg\u00fan el ReNaFQ (Registro Nacional de Fibrosis Qu\u00edstica) 52% son hombres y el 80% tienen menos de 26 a\u00f1os, lo que destaca la prevalencia de casos en adultos j\u00f3venes.<\/li>\n\n\n\n<li>Se estima que una de cada 40 personas en Argentina es portadora sana de esta enfermedad. Para conocer si los futuros padres son ambos portadores sanos de la enfermedad, se puede realizar un estudio de ADN en el contexto de un asesoramiento gen\u00e9tico, lo cual puede ser crucial para futuras decisiones familiares.<\/li>\n<\/ul>\n\n\n\n<figure class=\"wp-block-image size-full is-resized is-style-default\"><img loading=\"lazy\" decoding=\"async\" width=\"600\" height=\"338\" src=\"https:\/\/sergiolapegue.com\/site\/wp-content\/uploads\/2024\/09\/Fibrosis-Quistica01.jpg\" alt=\"\" class=\"wp-image-17621\" style=\"width:695px;height:auto\" srcset=\"https:\/\/sergiolapegue.com\/site\/wp-content\/uploads\/2024\/09\/Fibrosis-Quistica01.jpg 600w, https:\/\/sergiolapegue.com\/site\/wp-content\/uploads\/2024\/09\/Fibrosis-Quistica01-300x169.jpg 300w\" sizes=\"auto, (max-width: 600px) 100vw, 600px\" \/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Tratamientos innovadores y esperanza para el futuro<\/strong><br><br>Si bien a\u00fan no existe una cura para la FQ, los avances cient\u00edficos han sido notables. Nuevos medicamentos, conocidos como moduladores, est\u00e1n revolucionando el tratamiento al ser el primero disponible dirigido corregir la funci\u00f3n de la prote\u00edna defectuosa que causa la enfermedad. Estos medicamentos han demostrado mejorar significativamente los s\u00edntomas y ralentizar la progresi\u00f3n de la enfermedad. Sin embargo, el 20% de los pacientes con FQ presentan mutaciones que no responden a estos moduladores, lo que subraya la necesidad de continuar investigando para encontrar una cura o tratamientos m\u00e1s efectivos.<br><br>Es fundamental que este tratamiento sea personalizado y administrado bajo la supervisi\u00f3n de un centro especializado en FQ, lo que tambi\u00e9n favorece la adherencia de los pacientes a la terapia, dado que requiere un compromiso diario considerable.<br><br>Hoy, m\u00e1s que nunca, miramos al futuro con esperanza. Un futuro que nunca ha sido tan prometedor para los pacientes con FQ y sus familias. Es un momento para reconocer los esfuerzos incansables de investigadores, profesionales de la salud y organizaciones de familiares que trabajan d\u00eda a d\u00eda para mejorar la calidad y la expectativa de vida de quienes viven con esta enfermedad. Como enfermedad minoritaria, es crucial visibilizar la FQ y promover la concientizaci\u00f3n en la sociedad.<br><br><em><strong>Asesoraron:&nbsp;<\/strong>Dra. Corina Magadan (MN 114538) y Dr. Federico Alaimo (MN 114538), Coordinadores de la Secci\u00f3n Fibrosis Qu\u00edstica de la Asociaci\u00f3n Argentina de Medicina Respiratoria.<\/em><\/p>\n","protected":false},"excerpt":{"rendered":"<p>La fibrosis qu\u00edstica (FQ) es una enfermedad gen\u00e9tica que afecta principalmente a los pulmones y al sistema digestivo. Causada por una mutaci\u00f3n en un gen espec\u00edfico, esta enfermedad provoca la producci\u00f3n de un moco espeso y pegajoso que obstruye los \u00f3rganos, dificultando la respiraci\u00f3n y la digesti\u00f3n. Desde 2007, la Ley Nacional 26.279 obliga a [&hellip;]<\/p>\n","protected":false},"author":4,"featured_media":17622,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[40],"tags":[3778,3776,157,1738,209,3777,2642,960,1686,268,66],"class_list":["post-17620","post","type-post","status-publish","format-standard","has-post-thumbnail","category-salud","tag-digestion","tag-digestivo","tag-enfermedad","tag-esperanza","tag-fibrosis","tag-moco","tag-organos","tag-pulmones","tag-quistica","tag-respirar","tag-salud"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Fibrosis Qu\u00edstica: Un desaf\u00edo que se enfrenta con esperanza - Sergio Lapegue<\/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:\/\/sergiolapegue.com\/site\/2024\/09\/09\/fibrosis-quistica-un-desafio-que-se-enfrenta-con-esperanza\/\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Fibrosis Qu\u00edstica: Un desaf\u00edo que se enfrenta con esperanza - Sergio Lapegue\" \/>\n<meta property=\"og:description\" content=\"La fibrosis qu\u00edstica (FQ) es una enfermedad gen\u00e9tica que afecta principalmente a los pulmones y al sistema digestivo. Causada por una mutaci\u00f3n en un gen espec\u00edfico, esta enfermedad provoca la producci\u00f3n de un moco espeso y pegajoso que obstruye los \u00f3rganos, dificultando la respiraci\u00f3n y la digesti\u00f3n. Desde 2007, la Ley Nacional 26.279 obliga a [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/sergiolapegue.com\/site\/2024\/09\/09\/fibrosis-quistica-un-desafio-que-se-enfrenta-con-esperanza\/\" \/>\n<meta property=\"og:site_name\" content=\"Sergio Lapegue\" \/>\n<meta property=\"article:publisher\" content=\"https:\/\/facebook.com\/sergiolapegue\" \/>\n<meta property=\"article:published_time\" content=\"2024-09-09T12:21:00+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/sergiolapegue.com\/site\/wp-content\/uploads\/2024\/09\/Fibrosis-Quistica02.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"688\" \/>\n\t<meta property=\"og:image:height\" content=\"364\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"author\" content=\"Leonardo Monta\u00f1a\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@https:\/\/twitter.com\/soytoto81\" \/>\n<meta name=\"twitter:site\" content=\"@sergiolapegue\" \/>\n<meta name=\"twitter:label1\" content=\"Escrito por\" \/>\n\t<meta name=\"twitter:data1\" content=\"Leonardo Monta\u00f1a\" \/>\n\t<meta name=\"twitter:label2\" content=\"Tiempo de lectura\" \/>\n\t<meta name=\"twitter:data2\" content=\"4 minutos\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/sergiolapegue.com\\\/site\\\/2024\\\/09\\\/09\\\/fibrosis-quistica-un-desafio-que-se-enfrenta-con-esperanza\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/sergiolapegue.com\\\/site\\\/2024\\\/09\\\/09\\\/fibrosis-quistica-un-desafio-que-se-enfrenta-con-esperanza\\\/\"},\"author\":{\"name\":\"Leonardo Monta\u00f1a\",\"@id\":\"https:\\\/\\\/sergiolapegue.com\\\/site\\\/#\\\/schema\\\/person\\\/00adf937d010c7f79a180dc4916a40e0\"},\"headline\":\"Fibrosis Qu\u00edstica: Un desaf\u00edo que se enfrenta con esperanza\",\"datePublished\":\"2024-09-09T12:21:00+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/sergiolapegue.com\\\/site\\\/2024\\\/09\\\/09\\\/fibrosis-quistica-un-desafio-que-se-enfrenta-con-esperanza\\\/\"},\"wordCount\":644,\"publisher\":{\"@id\":\"https:\\\/\\\/sergiolapegue.com\\\/site\\\/#\\\/schema\\\/person\\\/083aeceeb0734cd166779ea6c0551a37\"},\"image\":{\"@id\":\"https:\\\/\\\/sergiolapegue.com\\\/site\\\/2024\\\/09\\\/09\\\/fibrosis-quistica-un-desafio-que-se-enfrenta-con-esperanza\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/sergiolapegue.com\\\/site\\\/wp-content\\\/uploads\\\/2024\\\/09\\\/Fibrosis-Quistica02.jpg\",\"keywords\":[\"digestion\",\"digestivo\",\"enfermedad\",\"esperanza\",\"fibrosis\",\"moco\",\"organos\",\"pulmones\",\"quistica\",\"respirar\",\"salud\"],\"articleSection\":[\"Salud\"],\"inLanguage\":\"es-AR\"},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/sergiolapegue.com\\\/site\\\/2024\\\/09\\\/09\\\/fibrosis-quistica-un-desafio-que-se-enfrenta-con-esperanza\\\/\",\"url\":\"https:\\\/\\\/sergiolapegue.com\\\/site\\\/2024\\\/09\\\/09\\\/fibrosis-quistica-un-desafio-que-se-enfrenta-con-esperanza\\\/\",\"name\":\"Fibrosis Qu\u00edstica: Un desaf\u00edo que se enfrenta con esperanza - 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