{"id":7172,"date":"2025-06-30T11:51:38","date_gmt":"2025-06-30T09:51:38","guid":{"rendered":"https:\/\/barcelonainternationalhospitals.com\/?page_id=7172"},"modified":"2026-03-23T13:21:34","modified_gmt":"2026-03-23T13:21:34","slug":"malalties-rares-gestio-hospitals-referencia-barcelona","status":"publish","type":"post","link":"https:\/\/barcelonainternationalhospitals.com\/ca\/rare-diseases-and-their-management-in-referral-hospitals-in-barcelona\/","title":{"rendered":"Malalties rares i el seu maneig en hospitals de refer\u00e8ncia de Barcelona"},"content":{"rendered":"<p><span style=\"font-weight: 400;\">El camp m\u00e8dic identifica les malalties rares com a malalties orfes perqu\u00e8 afecten menys d&#039;1 de cada 2.000 persones a tot el m\u00f3n, per\u00f2 hi ha m\u00e9s de 7.000 malalties d&#039;aquest tipus a nivell mundial. El nombre total de persones afectades per aquestes malalties rares supera els 300 milions a tot el m\u00f3n, mentre que Espanya t\u00e9 aproximadament 3 milions d&#039;aquests pacients. La xarxa d&#039;Hospitals Internacionals de Barcelona (BIH) proporciona atenci\u00f3 multidisciplin\u00e0ria experta per a aquestes afeccions complexes gr\u00e0cies a les seves institucions capdavanteres.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">El BIH uneix diversos hospitals de primer nivell de la ciutat que mantenen un enfocament internacional i ofereixen atenci\u00f3 m\u00e8dica innovadora amb alts est\u00e0ndards. Els hospitals funcionen com a centres de refer\u00e8ncia per a malalties rares perqu\u00e8 proporcionen diagn\u00f2stic preco\u00e7 i tractament complet, aix\u00ed com acc\u00e9s a investigacions innovadores i assajos cl\u00ednics.<\/span><\/p>\n<h2><span style=\"font-weight: 400;\">Comprendre les malalties rares: un repte m\u00e8dic complex<\/span><\/h2>\n<p><span style=\"font-weight: 400;\">Les malalties rares consisteixen en afeccions m\u00e8diques cr\u00f2niques, progressives i potencialment mortals. L&#039;origen gen\u00e8tic de les malalties rares explica el 80% de tots els casos i la majoria comencen durant la inf\u00e0ncia. Les causes d&#039;aquestes malalties inclouen infeccions, aix\u00ed com trastorns autoimmunitaris i factors ambientals. La raresa d&#039;aquestes malalties fa que els pacients se sotmetin a extensos procediments diagn\u00f2stics abans de rebre el diagn\u00f2stic m\u00e8dic correcte de m\u00faltiples especialistes.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">La import\u00e0ncia dels hospitals de refer\u00e8ncia especialitzats en malalties rares es fa evident per aquest motiu. Els hospitals proporcionen coneixements centralitzats alhora que utilitzen proves gen\u00e8tiques per simplificar el diagn\u00f2stic i oferir plans d&#039;atenci\u00f3 a llarg termini individualitzats per a la condici\u00f3 espec\u00edfica de cada pacient.<\/span><\/p>\n<h2><span style=\"font-weight: 400;\">Els hospitals de BIH a l&#039;avantguarda de l&#039;atenci\u00f3 a les malalties rares<\/span><\/h2>\n<h3><span style=\"font-weight: 400;\">Hospital Sant Joan de D\u00e9u Barcelona (SJD)<\/span><\/h3>\n<p><span style=\"font-weight: 400;\">L&#039;SJD opera com un dels millors hospitals pedi\u00e0trics d&#039;Europa i serveix com a punt de refer\u00e8ncia per al diagn\u00f2stic i tractament de malalties rares. L&#039;Institut Pedi\u00e0tric de Malalties Rares (IPER) d&#039;aquest hospital ofereix atenci\u00f3 especialitzada per a malalties complexes i ultrarares en nens.<\/span><\/p>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Equips multidisciplinaris:<\/b><span style=\"font-weight: 400;\"> Els pacients s\u00f3n tractats per equips coordinats que inclouen genetistes, neur\u00f2legs, immun\u00f2legs i psic\u00f2legs.<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Diagn\u00f2stic Gen\u00f2mic Avan\u00e7at:<\/b><span style=\"font-weight: 400;\"> SJD ofereix proves i assessorament gen\u00e8tic r\u00e0pids, que permeten diagn\u00f2stics m\u00e9s preco\u00e7os i precisos.<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Col\u00b7laboraci\u00f3 internacional:<\/b><span style=\"font-weight: 400;\"> L&#039;hospital forma part de diverses Xarxes Europees de Refer\u00e8ncia (RER) i ha creat la plataforma digital <\/span><b>Comparteix4Rare<\/b><span style=\"font-weight: 400;\"> connectar fam\u00edlies i investigadors d&#039;arreu del m\u00f3n.<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>La Xarxa \u00danica:<\/b><span style=\"font-weight: 400;\"> Aquesta xarxa digital pionera coordina l&#039;atenci\u00f3 de malalties rares pedi\u00e0triques a tot Espanya mitjan\u00e7ant la telemedicina i la integraci\u00f3 de dades.<\/span><\/li>\n<\/ul>\n<p><span style=\"font-weight: 400;\">SJD combina diagn\u00f2stics d&#039;alta tecnologia amb un fort enfocament en el suport emocional i social per a nens i fam\u00edlies.<\/span><\/p>\n<h3><span style=\"font-weight: 400;\">barnacl\u00ednic+ (Grup Hospital Cl\u00ednic)<\/span><\/h3>\n<p><span style=\"font-weight: 400;\">barnacl\u00ednic+ \u00e9s la unitat sanit\u00e0ria privada de l&#039;Hospital Cl\u00ednic de Barcelona, un hospital docent i de recerca reconegut mundialment. <\/span><span style=\"font-weight: 400;\">L&#039;hospital funciona com a centre de doc\u00e8ncia i recerca a nivell mundial i serveix com a centre de refer\u00e8ncia per a m\u00faltiples malalties rares que afecten els adults.<\/span><\/p>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Membres de les ERN:<\/b><span style=\"font-weight: 400;\"> L&#039;hospital participa en sis xarxes d&#039;emerg\u00e8ncies neuronals (ERN), incloent-hi malalties neurol\u00f2giques, pulmonars i hep\u00e0tiques rares.<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Recerca translacional:<\/b><span style=\"font-weight: 400;\"> A trav\u00e9s del seu institut de recerca, <\/span><b>IDIBAPS<\/b><span style=\"font-weight: 400;\">, l&#039;hospital desenvolupa ter\u00e0pies i biomarcadors innovadors.<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Expertesa en casos complexos:<\/b><span style=\"font-weight: 400;\"> Els especialistes treballen en trastorns autoimmunitaris rars, afeccions metab\u00f2liques heredit\u00e0ries i formes rares de c\u00e0ncer.<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Serveis per a pacients internacionals:<\/b><span style=\"font-weight: 400;\"> barnacl\u00ednic+ ofereix programes a mida per a pacients internacionals, incloent-hi segones opinions i acc\u00e9s a tractaments experimentals.<\/span><\/li>\n<\/ul>\n<p><span style=\"font-weight: 400;\">La seva combinaci\u00f3 de profunditat cl\u00ednica, lideratge en recerca i accessibilitat global la converteix en una destinaci\u00f3 privilegiada per a adults amb malalties rares.<\/span><\/p>\n<h3><span style=\"font-weight: 400;\">Centro M\u00e9dico Teknon (Grup Quir\u00f3nsalud)<\/span><\/h3>\n<p><span style=\"font-weight: 400;\">Teknon \u00e9s un centre m\u00e8dic privat de renom que ofereix atenci\u00f3 d&#039;alta complexitat en m\u00faltiples especialitats. \u00c9s especialment conegut per la gesti\u00f3 de trastorns rars en neurologia, oncologia i immunologia.<\/span><\/p>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Medicina de precisi\u00f3:<\/b><span style=\"font-weight: 400;\"> Teknon aplica plans de tractament personalitzats per a pacients amb malalties gen\u00e8tiques rares, disfuncions del sistema immunitari i malalties neurodegeneratives.<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>S\u00edndromes de c\u00e0ncer rares:<\/b><span style=\"font-weight: 400;\"> El seu equip d&#039;oncologia tracta s\u00edndromes de c\u00e0ncer hereditari i tipus de tumors rars.<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Coordinaci\u00f3 internacional:<\/b><span style=\"font-weight: 400;\"> Amb gestors d&#039;atenci\u00f3 multiling\u00fces, l&#039;hospital garanteix experi\u00e8ncies fluides per a pacients internacionals amb afeccions rares i complexes.<\/span><\/li>\n<\/ul>\n<h3><span style=\"font-weight: 400;\">Hospital Universitari Dexeus (Grup Quir\u00f3nsalud)<\/span><\/h3>\n<p><span style=\"font-weight: 400;\">Dexeus \u00e9s l\u00edder en salut femenina, medicina maternofetal i atenci\u00f3 neonatal, amb experi\u00e8ncia en malalties rares relacionades amb la reproducci\u00f3 i el desenvolupament primerenc.<\/span><\/p>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Proves gen\u00e8tiques prenatals:<\/b><span style=\"font-weight: 400;\"> L&#039;hospital ofereix proves de cribratge fetal avan\u00e7ades per detectar anomalies cong\u00e8nites i heredit\u00e0ries.<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Atenci\u00f3 de transici\u00f3 pedi\u00e0trica:<\/b><span style=\"font-weight: 400;\"> Col\u00b7labora amb altres centres per garantir l&#039;atenci\u00f3 continuada als infants amb malalties rares a mesura que arriben a l&#039;edat adulta.<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Trastorns hereditaris en ginecologia:<\/b><span style=\"font-weight: 400;\"> Dexeus gestiona s\u00edndromes gen\u00e8tiques que afecten la salut reproductiva, com ara la s\u00edndrome de Turner o la s\u00edndrome de l&#039;X fr\u00e0gil.<\/span><\/li>\n<\/ul>\n<p><span style=\"font-weight: 400;\">Aquest hospital est\u00e0 especialment indicat per a malalties rares que afecten mares, nadons i fam\u00edlies durant les primeres etapes de la vida.<\/span><\/p>\n<h3><span style=\"font-weight: 400;\">Hospital Quir\u00f3nsalud Barcelona<\/span><\/h3>\n<p><span style=\"font-weight: 400;\">L&#039;hospital Quir\u00f3nsalud Barcelona ofereix atenci\u00f3 m\u00e8dica completa en totes les especialitats i t\u00e9 programes s\u00f2lids en medicina interna, oncologia i neurologia. Est\u00e0 jugant un paper cada cop m\u00e9s important en l&#039;atenci\u00f3 a les malalties rares.<\/span><\/p>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Capacitats de diagn\u00f2stic complexes:<\/b><span style=\"font-weight: 400;\"> Amb serveis complets d&#039;imatge diagn\u00f2stica i de laboratori, l&#039;hospital est\u00e0 equipat per identificar malalties rares de manera r\u00e0pida i precisa.<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Xarxes especialitzades:<\/b><span style=\"font-weight: 400;\"> L&#039;hospital integra m\u00faltiples subespecialistes per gestionar afeccions com ara trastorns endocrins rars, malalties mitocondrials i s\u00edndromes neurol\u00f2giques rares.<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Acc\u00e9s a assajos cl\u00ednics:<\/b><span style=\"font-weight: 400;\"> Com a part de la xarxa Quir\u00f3nsalud, els pacients poden accedir a la recerca i als assajos cl\u00ednics de ter\u00e0pies emergents.<\/span><\/li>\n<\/ul>\n<p><span style=\"font-weight: 400;\">La combinaci\u00f3 de tecnologia, experi\u00e8ncia i orientaci\u00f3 global a l&#039;atenci\u00f3 al pacient de l&#039;hospital el converteix en una opci\u00f3 s\u00f2lida per a casos complexos.<\/span><\/p>\n<h3><span style=\"font-weight: 400;\">Fundaci\u00f3 Puigvert: Urologia i Gen\u00e8tica Renal<\/span><\/h3>\n<p><span style=\"font-weight: 400;\">Especialitzat en nefrologia, urologia i andrologia, <\/span><b>Fundaci\u00f3 Puigvert<\/b><span style=\"font-weight: 400;\"> \u00e9s un dels principals centres d&#039;Europa per a malalties renals i del tracte urinari rares.<\/span><\/p>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Malalties renals rares:<\/b><span style=\"font-weight: 400;\"> L&#039;hospital tracta malalties renals gen\u00e8tiques com la s\u00edndrome d&#039;Alport i la malaltia renal poliqu\u00edstica.<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>S\u00edndromes reproductives masculines:<\/b><span style=\"font-weight: 400;\"> Els experts tracten causes rares d&#039;infertilitat masculina i anomalies cong\u00e8nites.<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Cl\u00edniques multidisciplin\u00e0ries:<\/b><span style=\"font-weight: 400;\"> Els equips inclouen nefr\u00f2legs, ur\u00f2legs, genetistes i endocrin\u00f2legs, la qual cosa garanteix un enfocament hol\u00edstic.<\/span><\/li>\n<\/ul>\n<p><span style=\"font-weight: 400;\">El seu enfocament en afeccions genitourin\u00e0ries rares complementa els punts forts d&#039;altres hospitals de BIH.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Descobreix tots els hospitals afiliats a BIH i els seus serveis m\u00e8dics avan\u00e7ats visitant aquesta p\u00e0gina: <\/span><a href=\"https:\/\/barcelonainternationalhospitals.com\/en\/hospital\/\"><span style=\"font-weight: 400;\">Hospitals<\/span><\/a><span style=\"font-weight: 400;\">.<\/span><\/p>\n<h2><span style=\"font-weight: 400;\">Per qu\u00e8 escollir BIH per a malalties rares?<\/span><\/h2>\n<p><span style=\"font-weight: 400;\">Els Hospitals Internacionals de Barcelona ofereixen una combinaci\u00f3 \u00fanica d&#039;avantatges per a pacients amb malalties rares:<\/span><\/p>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Equips multidisciplinaris<\/b><span style=\"font-weight: 400;\"> experi\u00e8ncia en trastorns rars, complexos i gen\u00e8tics<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Acc\u00e9s a diagn\u00f2stics gen\u00f2mics avan\u00e7ats<\/b><span style=\"font-weight: 400;\"> i proves moleculars<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Participaci\u00f3 en xarxes europees i recerca cl\u00ednica<\/b><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Atenci\u00f3 centrada en el pacient<\/b><span style=\"font-weight: 400;\"> que inclou la gesti\u00f3 de casos, el suport internacional i les eines digitals<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><b>Comprom\u00eds amb la innovaci\u00f3<\/b><span style=\"font-weight: 400;\"> a trav\u00e9s de la recerca translacional i la medicina personalitzada<\/span><\/li>\n<\/ul>\n<p><span style=\"font-weight: 400;\">L&#039;experi\u00e8ncia de tractar una malaltia rara crea una situaci\u00f3 profundament personal i aclaparadora per als pacients. La xarxa d&#039;hospitals del BIH ofereix experi\u00e8ncia reconeguda internacionalment, diagn\u00f2stics d&#039;avantguarda i una atenci\u00f3 compassiva i coordinada. Els hospitals del BIH lideren la gesti\u00f3 de malalties rares tant per a nens com per a adults i per a afeccions gen\u00e8tiques i adquirides, alhora que ofereixen solucions m\u00e8diques i esperan\u00e7a als pacients.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Fes el primer pas cap a l&#039;atenci\u00f3 experta \u2014 <a href=\"https:\/\/barcelonainternationalhospitals.com\/en\/contact\/\">contacta&#039;ns avui mateix<\/a><\/span><span style=\"font-weight: 400;\">\u00a0per explorar les teves opcions de tractament o programar una consulta.<\/span><\/p>\n<p>Als Hospitals Internacionals de Barcelona trobareu els hospitals m\u00e9s prestigiosos de la ciutat de Barcelona.<\/p>\n<p>El comprom\u00eds de Barcelona International Hospitals amb la recerca ens impulsa a compartir articles m\u00e8dics que us ajudaran a entendre la feina dels nostres especialistes m\u00e8dics.<\/p>","protected":false},"excerpt":{"rendered":"<p>The medical field identifies rare diseases as orphan diseases because they impact less than 1 in 2,000 people worldwide but there are more than 7,000 such diseases globally. The total number of people affected by these rare diseases exceeds 300 million worldwide while Spain has approximately 3 million such patients. The Barcelona International Hospitals (BIH) [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":11739,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[14],"tags":[],"class_list":["post-7172","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-medical-treatments-and-specialties"],"yoast_head":"<!-- This site is optimized with the Yoast SEO Premium plugin v26.8 (Yoast SEO v27.4) - https:\/\/yoast.com\/product\/yoast-seo-premium-wordpress\/ -->\n<title>Rare Disease Care in Barcelona | Barcelona International Hospitals<\/title>\n<meta name=\"description\" content=\"Discover how Barcelona International Hospitals manage rare diseases with advanced diagnostics and multidisciplinary teams.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" 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