{"id":33525,"date":"2025-02-27T10:49:35","date_gmt":"2025-02-27T09:49:35","guid":{"rendered":"https:\/\/www.mgc.es\/?p=33525"},"modified":"2025-01-16T11:01:24","modified_gmt":"2025-01-16T10:01:24","slug":"fibrosi-quistica","status":"publish","type":"post","link":"https:\/\/www.mgc.es\/ca\/blog\/fibrosi-quistica\/","title":{"rendered":"Fibrosi qu\u00edstica"},"content":{"rendered":"<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_82_1 counter-hierarchy ez-toc-counter ez-toc-custom ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\"><p class=\"ez-toc-title\" style=\"cursor:inherit\">\u00cdndex de continguts<\/p>\n<\/div><nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.mgc.es\/ca\/blog\/fibrosi-quistica\/#Que_es_la_fibrosi_quistica\" >Qu\u00e8 \u00e9s la fibrosi qu\u00edstica<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.mgc.es\/ca\/blog\/fibrosi-quistica\/#Per_que_es_produeix\" >Per qu\u00e8 es produeix<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.mgc.es\/ca\/blog\/fibrosi-quistica\/#Quins_son_els_simptomes\" >Quins s\u00f3n els s\u00edmptomes<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.mgc.es\/ca\/blog\/fibrosi-quistica\/#Diagnostic_de_la_fibrosi_quistica\" >Diagn\u00f2stic de la fibrosi qu\u00edstica<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.mgc.es\/ca\/blog\/fibrosi-quistica\/#Tractament_de_la_fibrosi_quistica\" >Tractament de la fibrosi qu\u00edstica<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.mgc.es\/ca\/blog\/fibrosi-quistica\/#Pronostic_de_la_fibrosi_quistica\" >Pron\u00f2stic de la fibrosi qu\u00edstica<\/a><\/li><\/ul><\/nav><\/div>\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"800\" height=\"352\" src=\"https:\/\/www.mgc.es\/wp-content\/uploads\/2025\/01\/fibrosis-quistica.jpg\" alt=\"\" class=\"wp-image-33523\" srcset=\"https:\/\/www.mgc.es\/wp-content\/uploads\/2025\/01\/fibrosis-quistica.jpg 800w, https:\/\/www.mgc.es\/wp-content\/uploads\/2025\/01\/fibrosis-quistica-440x194.jpg 440w, https:\/\/www.mgc.es\/wp-content\/uploads\/2025\/01\/fibrosis-quistica-768x338.jpg 768w\" sizes=\"auto, (max-width: 800px) 100vw, 800px\" \/><\/figure>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Que_es_la_fibrosi_quistica\"><\/span><strong>Qu\u00e8 \u00e9s la fibrosi qu\u00edstica<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u00c9s una malaltia greu, cr\u00f2nica i heredit\u00e0ria que afecta principalment els pulmons i el sistema digestiu. Segons la Federaci\u00f3 Espanyola de Fibrosi Qu\u00edstica, a Espanya hi ha 2.500 persones afectades, el 53% de les quals s\u00f3n homes i el 47% dones.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Per_que_es_produeix\"><\/span><strong>Per qu\u00e8 es produeix<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>La causa es troba en un gen defectu\u00f3s que fa que el cos produeixi un moc esp\u00e8s i enganx\u00f3s, que tendeix a acumular-se als pulmons i al p\u00e0ncrees. Aquesta acumulaci\u00f3 facilita la proliferaci\u00f3 de bacteris i altres organismes, provocant infeccions respirat\u00f2ries potencialment molt perilloses.<\/p>\n\n\n\n<p>Moltes persones s\u00f3n portadores del gen (fins a una de cada 35, segons la Federaci\u00f3), per\u00f2 perqu\u00e8 la malaltia es manifesti \u00e9s necessari que tant el pare com la mare siguin portadors.<br>Des de l&#8217;any 2015, la fibrosi qu\u00edstica est\u00e0 inclosa a tot Espanya en la prova de cribatge neonatal, la prova del tal\u00f3. Aquesta detecci\u00f3 preco\u00e7 \u00e9s fonamental per aconseguir una millor qualitat de vida i una major longevitat del pacient.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Quins_son_els_simptomes\"><\/span><strong>Quins s\u00f3n els s\u00edmptomes<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Els s\u00edmptomes s\u00f3n variables segons la gravetat de la malaltia i poden variar amb el temps, millorant o empitjorant. Tamb\u00e9 \u00e9s possible que no apareguin fins a l\u2019edat adulta; en aquests casos, la malaltia tendeix a ser m\u00e9s lleu, amb s\u00edmptomes m\u00e9s inespec\u00edfics com infertilitat, pneum\u00f2nies o pancreatitis.<\/p>\n\n\n\n<p><strong>S\u00edmptomes en els nounats<\/strong><br>La malabsorci\u00f3 intestinal provoca retards en el desenvolupament del nen; concretament:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Retard general del creixement<\/li>\n\n\n\n<li>Abs\u00e8ncia de meconi (deposicions) en les primeres 24 a 48 hores de vida<\/li>\n\n\n\n<li>Pell &#8220;salada&#8221;<\/li>\n<\/ul>\n\n\n\n<p><strong>S\u00edmptomes respiratoris<\/strong><br>El moc als pulmons tendeix a obstruir els bronquis i pot causar:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Infeccions recurrents als pulmons (pneum\u00f2nies)<\/li>\n\n\n\n<li>Congesti\u00f3 nasal<\/li>\n\n\n\n<li>Fatiga<\/li>\n\n\n\n<li>Tos persistent, amb esputs<\/li>\n\n\n\n<li>Xiulets i sibil\u00e0ncies en respirar<\/li>\n\n\n\n<li>Sinusitis, a causa de la inflamaci\u00f3 de les vies respirat\u00f2ries superiors<\/li>\n<\/ul>\n\n\n\n<p><strong>S\u00edmptomes digestius<\/strong><br>El moc tamb\u00e9 obstrueix els conductes pancre\u00e0tics (que transporten els enzims digestius). Sense aquests enzims, l&#8217;intest\u00ed no pot absorbir completament els nutrients, produint desnutrici\u00f3, amb conseq\u00fc\u00e8ncies com:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Estancament del pes i del creixement<\/li>\n\n\n\n<li>Femtes anormalment grasses, p\u00e0l\u00b7lides i de molt mal olor<\/li>\n\n\n\n<li>Augment dels gasos, amb possible distensi\u00f3 abdominal<\/li>\n\n\n\n<li>N\u00e0usees<\/li>\n\n\n\n<li>Obstruccions intestinals<\/li>\n\n\n\n<li>Restrenyiment greu que pot acabar causant el prolapse rectal (sortida a l\u2019exterior d\u2019una part del recte)<\/li>\n\n\n\n<li>Dolor abdominal<\/li>\n<\/ul>\n\n\n\n<p>Un altre s\u00edmptoma de la fibrosi qu\u00edstica \u00e9s l&#8217;eliminaci\u00f3 de molta sal per la suor, fet que provoca que la pell tingui un gust salat.<br>Amb el temps, la malaltia pot acabar causant esterilitat en els homes, inflamacions recurrents del p\u00e0ncrees (pancreatitis) i una malformaci\u00f3 curiosa als dits anomenada &#8220;en bastons de tambor&#8221;, on la darrera falange s&#8217;infla de manera anormal.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Diagnostic_de_la_fibrosi_quistica\"><\/span><strong>Diagn\u00f2stic de la fibrosi qu\u00edstica<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Com ja hem dit, el 91% dels casos de fibrosi qu\u00edstica es diagnostiquen en els primers dies de vida, gr\u00e0cies al cribatge neonatal o &#8220;prova del tal\u00f3&#8221;. Aquesta prova permet detectar preco\u00e7ment moltes altres malalties, a m\u00e9s de la FQ.<\/p>\n\n\n\n<p>Un altre m\u00e8tode de diagn\u00f2stic \u00e9s el test de la suor. Ha de ser realitzat per personal especialitzat i es basa en la detecci\u00f3 an\u00f2mala de nivells elevats de sal a la suor. Per a un diagn\u00f2stic inequ\u00edvoc, calen dos tests fiables.<\/p>\n\n\n\n<p>Els problemes possiblement relacionats amb la fibrosi qu\u00edstica requeriran proves i tests addicionals, com radiografies de t\u00f2rax, proves de funci\u00f3 pancre\u00e0tica, an\u00e0lisis de femtes, etc.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Tractament_de_la_fibrosi_quistica\"><\/span><strong>Tractament de la fibrosi qu\u00edstica<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Malauradament, la fibrosi qu\u00edstica no t\u00e9 cura; per\u00f2 s\u00ed que es poden tractar els s\u00edmptomes, que poden alleujar-se molt si s&#8217;interv\u00e9 el m\u00e9s aviat possible despr\u00e9s del diagn\u00f2stic de la malaltia.<\/p>\n\n\n\n<p>El tractament est\u00e0 dirigit principalment a prevenir les infeccions pulmonars, suavitzar i extreure la mucositat pulmonar, i prevenir i controlar les obstruccions intestinals. A m\u00e9s, el tractament ha d&#8217;incloure:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Una dieta adequada al trastorn, que pot incloure un augment de greixos i enzims pancre\u00e0tics<\/li>\n\n\n\n<li>Un programa d&#8217;exercici, destinat a enfortir els \u00f2rgans afectats (pulmons, cor) i els m\u00fasculs i ossos<\/li>\n<\/ul>\n\n\n\n<p>Donada la complexitat del tractament i les seves m\u00faltiples \u00e0rees d&#8217;actuaci\u00f3, el m\u00e9s recomanable \u00e9s acudir a una unitat hospital\u00e0ria especialitzada i multidisciplin\u00e0ria, que establir\u00e0 les pautes m\u00e9s adequades per a cada pacient.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Pronostic_de_la_fibrosi_quistica\"><\/span><strong>Pron\u00f2stic de la fibrosi qu\u00edstica<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Fins fa no m\u00e9s de quinze anys, els pacients amb fibrosi qu\u00edstica morien entre els 20 i 25 anys. Avui dia, el diagn\u00f2stic preco\u00e7 i els aven\u00e7os en els tractaments han augmentat l&#8217;esperan\u00e7a de vida fins als 45-55 anys, amb casos de molta m\u00e9s longevitat.<\/p>\n\n\n\n<p>Entre els aven\u00e7os en el tractament, cal destacar un f\u00e0rmac modulador de la mutaci\u00f3 del gen CTFR per a pacients amb determinades mutacions gen\u00e8tiques. Aquest medicament va mostrar bons resultats en nens majors de 6 anys i ara s\u2019aplica tamb\u00e9 a infants a partir dels dos anys.<\/p>\n\n\n\n<p>La majoria de defuncions es produeixen a causa de problemes pulmonars. El trasplantament de pulm\u00f3 pot ser una alternativa, per\u00f2 \u00e9s molt complex i comporta molts riscos, per la qual cosa es reserva per als casos m\u00e9s greus que no responen b\u00e9 als tractaments convencionals.<\/p>\n\n\n\n<p>Actualment hi ha nombroses investigacions en marxa, cosa que permet preveure aven\u00e7os en la superviv\u00e8ncia dels afectats per aquesta malaltia.<\/p>\n\n\n\n<p><strong>Bibliografia<\/strong><br>\ud83d\udd17 <a href=\"https:\/\/fibrosisquistica.org\/\">Federaci\u00f3 Espanyola de Fibrosi Qu\u00edstica<\/a><br>\ud83d\udd17 <a href=\"https:\/\/www.comunidad.madrid\/hospital\/12octubre\/comunicacion\/videoteca\/hospital-12-octubre-nuevo-tratamiento-fibrosis-quistica\">Hospital 12 d&#8217;Octubre &#8211; Nou tractament per a la fibrosi qu\u00edstica<\/a><br>\ud83d\udd17 <a href=\"https:\/\/www.msdmanuals.com\/es\/hogar\/salud-infantil\/fibrosis-qu%C3%ADstica\/fibrosis-qu%C3%ADstica\">Manual MSD &#8211; Fibrosi qu\u00edstica<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Qu\u00e8 \u00e9s la fibrosi qu\u00edstica \u00c9s una malaltia greu, cr\u00f2nica i heredit\u00e0ria que afecta principalment els pulmons i el sistema digestiu. Segons la Federaci\u00f3 Espanyola de Fibrosi Qu\u00edstica, a Espanya hi ha 2.500 persones afectades, el 53% de les quals s\u00f3n homes i el 47% dones. Per qu\u00e8 es produeix La causa es troba en [&hellip;]<\/p>\n","protected":false},"author":3,"featured_media":33523,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[978,15],"tags":[],"class_list":["post-33525","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-enfermedades-y-salud-general","category-salut"],"featured_image_src":"https:\/\/www.mgc.es\/wp-content\/uploads\/2025\/01\/fibrosis-quistica.jpg","author_info":{"display_name":"Revista Inter\u00e8s Mutu","author_link":"https:\/\/www.mgc.es\/ca\/blog\/author\/interesmutu\/"},"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.2 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Fibrosi qu\u00edstica - MGC M\u00fatua<\/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:\/\/www.mgc.es\/blog\/que-es-la-fibrosis-quistica\/\" \/>\n<meta property=\"og:locale\" content=\"ca_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Fibrosi qu\u00edstica - MGC M\u00fatua\" \/>\n<meta property=\"og:description\" content=\"Qu\u00e8 \u00e9s la fibrosi qu\u00edstica \u00c9s una malaltia greu, cr\u00f2nica i heredit\u00e0ria que afecta principalment els pulmons i el sistema digestiu. Segons la Federaci\u00f3 Espanyola de Fibrosi Qu\u00edstica, a Espanya hi ha 2.500 persones afectades, el 53% de les quals s\u00f3n homes i el 47% dones. Per qu\u00e8 es produeix La causa es troba en [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.mgc.es\/blog\/que-es-la-fibrosis-quistica\/\" \/>\n<meta property=\"og:site_name\" content=\"MGC M\u00fatua\" \/>\n<meta property=\"article:publisher\" content=\"https:\/\/www.facebook.com\/mgcmutua\" \/>\n<meta property=\"article:published_time\" content=\"2025-02-27T09:49:35+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/www.mgc.es\/wp-content\/uploads\/2025\/01\/fibrosis-quistica.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"800\" \/>\n\t<meta property=\"og:image:height\" content=\"352\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"author\" content=\"Revista Inter\u00e8s Mutu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@mgcmutua\" \/>\n<meta name=\"twitter:site\" content=\"@mgcmutua\" \/>\n<meta name=\"twitter:label1\" content=\"Escrit per\" \/>\n\t<meta name=\"twitter:data1\" content=\"Revista Inter\u00e8s Mutu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Temps estimat de lectura\" \/>\n\t<meta name=\"twitter:data2\" content=\"5 minuts\" \/>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"Fibrosi qu\u00edstica - MGC M\u00fatua","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/www.mgc.es\/blog\/que-es-la-fibrosis-quistica\/","og_locale":"ca_ES","og_type":"article","og_title":"Fibrosi qu\u00edstica - MGC M\u00fatua","og_description":"Qu\u00e8 \u00e9s la fibrosi qu\u00edstica \u00c9s una malaltia greu, cr\u00f2nica i heredit\u00e0ria que afecta principalment els pulmons i el sistema digestiu. 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