{"id":203223,"date":"2022-10-11T18:46:11","date_gmt":"2022-10-11T21:46:11","guid":{"rendered":"https:\/\/diariotextual.com\/inicio\/?p=203223"},"modified":"2022-10-12T12:42:40","modified_gmt":"2022-10-12T15:42:40","slug":"en-el-molas-se-hizo-el-primer-estudio-genetico-molecular-para-fibrosis-quistica-a-una-bebe","status":"publish","type":"post","link":"https:\/\/diariotextual.com\/inicio\/index.php\/2022\/10\/11\/en-el-molas-se-hizo-el-primer-estudio-genetico-molecular-para-fibrosis-quistica-a-una-bebe\/","title":{"rendered":"En el Molas se hizo el primer estudio gen\u00e9tico molecular para fibrosis qu\u00edstica a una beb\u00e9"},"content":{"rendered":"\n<p>En el <strong>Hospital Lucio Molas<\/strong> recientemente se logr\u00f3, a trav\u00e9s de t\u00e9cnicas de biolog\u00eda molecular,<strong> el primer diagn\u00f3stico gen\u00e9tico molecular de fibrosis qu\u00edstica a una beb\u00e9.<\/strong><\/p>\n\n\n\n<p>El estudio molecular tambi\u00e9n se llev\u00f3 a cabo en los padres. Se confirm\u00f3 las dos mutaciones detectadas en la reci\u00e9n nacida, inform\u00f3 el Ministerio de Salud.<\/p>\n\n\n\n<p>Esta enfermedad afecta a las c\u00e9lulas que producen la mucosa, el sudor y los jugos g\u00e1stricos. Provoca que estos fluidos se tornen espesos y pegajosos. Luego, atascan los tubos, los tractos y los canales.<br><\/p>\n\n\n\n<p>Los s\u00edntomas pueden variar. Incluyen tos, infecciones pulmonares repetitivas, imposibilidad de subir de peso y heces grasas.<\/p>\n\n\n\n<p>\u201cEs de mucha importancia poder realizar este tipo de estudios en nuestra provincia, ya que un diagn\u00f3stico precoz tiene un importante impacto en la salud del ni\u00f1o\/a afectado, permitiendo asimismo realizar un oportuno asesoramiento gen\u00e9tico familiar\u201d, dijeron referentes del estudio a la Agencia Provincial de Noticias. &nbsp;\u201cEn el diagn\u00f3stico de esta enfermedad juega un rol importante la pesquisa neonatal, que se realiza de forma obligatoria desde 2007, tras la sanci\u00f3n de la Ley Nacional 26.279 de detecci\u00f3n y posterior tratamiento de las patolog\u00edas gen\u00e9ticas y\/o cong\u00e9nitas que resulten discapacitantes, los cuales ya se realizan en la provincia de La Pampa. Es esta pesquisa de los beb\u00e9s reci\u00e9n nacidos lo que permite que alrededor del 60% de los pacientes cuenten con un diagn\u00f3stico antes del primer a\u00f1o de vida\u201d, expresaron.<\/p>\n\n\n\n<p>La Fibrosis Qu\u00edstica (FQ) es una enfermedad hereditaria, cr\u00f3nica y progresiva. Su modo de herencia es autos\u00f3mica recesiva, es decir que tanto la copia materna como la paterna del gen CFTR (Cystic Fibrosis Transmembrane Conductance) deben estar mutadas para que se desarrolle la enfermedad.<\/p>\n\n\n\n<p>En Argentina la incidencia de la enfermedad es de 1\/6700 reci\u00e9n nacidos aproximadamente. En tanto, la prevalencia de portadores sanos de una mutaci\u00f3n en la poblaci\u00f3n general es aproximadamente 1\/40.<\/p>\n\n\n\n<p>La presentaci\u00f3n cl\u00ednica es muy variable: desde la cl\u00e1sica grave con s\u00edntomas malabsortivos y respiratorios cr\u00f3nicos desde poco despu\u00e9s del nacimiento, a fenotipos leves como infertilidad, s\u00edntomas debidos a las p\u00e9rdidas excesivas de sal por el sudor, o poliposis nasal.<\/p>\n\n\n\n<p>En la actualidad hay sobrada evidencia de que la instauraci\u00f3n de un tratamiento adecuado en forma precoz, los conocimientos de la fisiopatolog\u00eda, las bases gen\u00e9ticas moleculares y la atenci\u00f3n por un equipo especializado permiten disminuir la progresi\u00f3n de la enfermedad y aumentar la sobrevida.<\/p>\n\n\n\n<p>Gracias al equipamiento adquirido durante la pandemia por el Gobierno provincial, con el cual se fortalecieron los laboratorios provinciales y al personal altamente capacitado que integra el Sector de Biolog\u00eda Molecular del Laboratorio Central del Hospital Lucio Molas, adem\u00e1s del estudio molecular para FQ, se llevan a cabo estudios gen\u00e9ticos para otras enfermedades hereditarias tales como Atrofia Muscular Espinal, Alfa- y Beta- Talasemias, Hemocromatosis Hereditaria Familiar y algunos estudios moleculares espec\u00edficos en Neoplasias Mieloproliferativas Cr\u00f3nicas (JAK-2, MPL y CALR) y estudios moleculares para Trombofilia.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>En el Hospital Lucio Molas recientemente se logr\u00f3, a trav\u00e9s de t\u00e9cnicas de biolog\u00eda molecular, el primer diagn\u00f3stico gen\u00e9tico molecular de fibrosis qu\u00edstica a una beb\u00e9. El estudio molecular tambi\u00e9n&hellip;<\/p>\n","protected":false},"author":3,"featured_media":203225,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[11,12],"tags":[],"class_list":["post-203223","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-que-pasa","category-sociedad"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.5 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>En el Molas se hizo el primer estudio gen\u00e9tico molecular para fibrosis qu\u00edstica a una beb\u00e9 - Diario Textual<\/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:\/\/diariotextual.com\/inicio\/index.php\/2022\/10\/11\/en-el-molas-se-hizo-el-primer-estudio-genetico-molecular-para-fibrosis-quistica-a-una-bebe\/\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"En el Molas se hizo el primer estudio gen\u00e9tico molecular para fibrosis qu\u00edstica a una beb\u00e9 - Diario Textual\" \/>\n<meta property=\"og:description\" content=\"En el Hospital Lucio Molas recientemente se logr\u00f3, a trav\u00e9s de t\u00e9cnicas de biolog\u00eda molecular, el primer diagn\u00f3stico gen\u00e9tico molecular de fibrosis qu\u00edstica a una beb\u00e9. 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