{"id":56438,"date":"2026-05-22T21:04:16","date_gmt":"2026-05-23T01:04:16","guid":{"rendered":"https:\/\/solisinforma.com\/?p=56438"},"modified":"2026-05-22T21:04:16","modified_gmt":"2026-05-23T01:04:16","slug":"sanjuanero-en-hospital-publico-de-getafe-identifica-una-nueva-variante-genetica-del-deficit-de-alfa-1-antitripsina","status":"publish","type":"post","link":"https:\/\/solisinforma.com\/?p=56438","title":{"rendered":"Sanjuanero en Hospital p\u00fablico de Getafe identifica una nueva variante gen\u00e9tica del d\u00e9ficit de alfa 1 antitripsina"},"content":{"rendered":"<ul>\n<li><strong>El m\u00e9dico, parte del grupo investigador es de origen sanjuanero, Rep\u00fablica Dominicana, Dr. Leonardo Salda\u00f1a P\u00e9rez, neum\u00f3logo y responsable de la consulta monogr\u00e1fica de Enfermedad Pulmonar Obstructiva Cr\u00f3nica (EPOC) del Hospital Universitario de Getafe.\n<p><img data-recalc-dims=\"1\" loading=\"lazy\" decoding=\"async\" class=\"size-medium wp-image-56439 aligncenter\" src=\"https:\/\/i0.wp.com\/solisinforma.com\/wp-content\/uploads\/2026\/05\/Sanjuanero-en-Getafe-investigador-medico.jpg?resize=640%2C367&#038;ssl=1\" alt=\"\" width=\"640\" height=\"367\" srcset=\"https:\/\/i0.wp.com\/solisinforma.com\/wp-content\/uploads\/2026\/05\/Sanjuanero-en-Getafe-investigador-medico-scaled.jpg?resize=1254%2C720&amp;ssl=1 1254w, https:\/\/i0.wp.com\/solisinforma.com\/wp-content\/uploads\/2026\/05\/Sanjuanero-en-Getafe-investigador-medico-scaled.jpg?resize=768%2C441&amp;ssl=1 768w, https:\/\/i0.wp.com\/solisinforma.com\/wp-content\/uploads\/2026\/05\/Sanjuanero-en-Getafe-investigador-medico-scaled.jpg?resize=1536%2C882&amp;ssl=1 1536w, https:\/\/i0.wp.com\/solisinforma.com\/wp-content\/uploads\/2026\/05\/Sanjuanero-en-Getafe-investigador-medico-scaled.jpg?resize=2048%2C1176&amp;ssl=1 2048w, https:\/\/i0.wp.com\/solisinforma.com\/wp-content\/uploads\/2026\/05\/Sanjuanero-en-Getafe-investigador-medico-scaled.jpg?resize=1024%2C588&amp;ssl=1 1024w, https:\/\/i0.wp.com\/solisinforma.com\/wp-content\/uploads\/2026\/05\/Sanjuanero-en-Getafe-investigador-medico-scaled.jpg?w=1920&amp;ssl=1 1920w\" sizes=\"auto, (max-width: 640px) 100vw, 640px\" \/><br \/>\n<\/strong><\/li>\n<\/ul>\n<p>Neum\u00f3logos del Hospital Universitario de Getafe, perteneciente a la red sanitaria p\u00fablica de la Comunidad de Madrid, han identificado una nueva variante gen\u00e9tica del d\u00e9ficit de alfa-1 antitripsina, denominada &#8216;Pi Getafe&#8217;, una enfermedad gen\u00e9tica infradiagnosticada que aumenta el riesgo de desarrollar patolog\u00edas respiratorias y hep\u00e1ticas. Este hallazgo, publicado en la revista &#8216;Respiratory Research&#8217;, refuerza el compromiso del Hospital con la investigaci\u00f3n y el diagn\u00f3stico precoz de enfermedades respiratorias raras.<\/p>\n<p>La detecci\u00f3n de esta nueva variante del Gen Serpina1, \u201cgenera mayor conocimiento sobre las alteraciones gen\u00e9ticas cl\u00ednicamente relevantes, permitiendo identificar a pacientes que desconoc\u00edan padecer la enfermedad y abre nuevas v\u00edas para investigar posibles estrategias terap\u00e9uticas\u201d, ha destacado el Dr. Leonardo Salda\u00f1a P\u00e9rez, neum\u00f3logo y responsable de la consulta monogr\u00e1fica de Enfermedad Pulmonar Obstructiva Cr\u00f3nica (EPOC) del Hospital Universitario de Getafe.<\/p>\n<p>El d\u00e9ficit de alfa-1 antitripsina es una afecci\u00f3n que se genera porque el organismo no produce suficiente cantidad de esta prote\u00edna e implica una menor protecci\u00f3n de los pulmones frente a agresiones externas como el tabaco y otros contaminantes ambientales.<\/p>\n<p>Esta enfermedad se relaciona principalmente con patolog\u00edas respiratorias como la Enfermedad Pulmonar Obstructiva Cr\u00f3nica (EPOC), el enfisema pulmonar precoz, las bronquiectasias y asma de dif\u00edcil control, adem\u00e1s de diversas enfermedades hep\u00e1ticas.<\/p>\n<p><strong>Posibles beneficios para los pacientes<\/strong><\/p>\n<p>Su detecci\u00f3n temprana permite prevenir complicaciones respiratorias y hep\u00e1ticas, establecer medidas preventivas, como evitar el tabaquismo y otros t\u00f3xicos inhalados, e identificar familiares potencialmente afectados mediante programas de cribado gen\u00e9tico.<\/p>\n<p>El descubrimiento de nuevas variantes gen\u00e9ticas asimismo puede mejorar el diagn\u00f3stico de pacientes con enfermedades respiratorias de origen no filiado o con evoluci\u00f3n cl\u00ednica no esperada, lo que favorece una medicina m\u00e1s personalizada y adaptada al perfil de riesgo de cada paciente.<\/p>\n<p>En el futuro, este tipo de hallazgos podr\u00eda contribuir al desarrollo de nuevas estrategias terap\u00e9uticas dirigidas espec\u00edficamente a las alteraciones moleculares implicadas en el d\u00e9ficit de alfa-1 antitripsina.<\/p>\n<p>El Servicio de Neumolog\u00eda del Hospital Universitario de Getafe participa en proyectos de investigaci\u00f3n y programas de despistaje familiar, lo que contribuye a ampliar el conocimiento sobre estas patolog\u00edas y al desarrollo de estrategias cl\u00ednicas de manejo y tratamiento.<\/p>\n<p><span style=\"color: #808080;\">Fuente: Comunidad Madrid.-<\/span><\/p>\n","protected":false},"excerpt":{"rendered":"<p>El m\u00e9dico, parte del grupo investigador es de origen sanjuanero, Rep\u00fablica Dominicana, Dr. Leonardo Salda\u00f1a&#8230;<\/p>\n","protected":false},"author":2,"featured_media":56439,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_jetpack_newsletter_access":"","_jetpack_dont_email_post_to_subs":false,"_jetpack_newsletter_tier_id":0,"_jetpack_memberships_contains_paywalled_content":false,"_jetpack_memberships_contains_paid_content":false,"_joinchat":[],"footnotes":"","jetpack_publicize_message":"","jetpack_publicize_feature_enabled":true,"jetpack_social_post_already_shared":true,"jetpack_social_options":{"image_generator_settings":{"template":"highway","default_image_id":0,"font":"","enabled":false},"version":2},"jetpack_post_was_ever_published":false},"categories":[15,39],"tags":[21616,21618,21615,872,920,46,21617],"class_list":["post-56438","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-internacional","category-primeraplana","tag-deficit-de-alfa-1-antitripsina","tag-getafe","tag-investigador","tag-medicina","tag-sanjuanero","tag-solis-informa","tag-variante-genetica"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v24.9 - 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