{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,18]],"date-time":"2025-04-18T04:15:17Z","timestamp":1744949717767,"version":"3.40.4"},"reference-count":68,"publisher":"Ordem dos Medicos","issue":"12","license":[{"start":{"date-parts":[[2023,9,23]],"date-time":"2023-09-23T00:00:00Z","timestamp":1695427200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Acta Med Port"],"abstract":"<jats:p>A fibrose qu\u00edstica \u00e9 a doen\u00e7a gen\u00e9tica letal mais comum na popula\u00e7\u00e3o branca, afetando aproximadamente 80 000 pessoas em todo o mundo. \u00c9 uma doen\u00e7a autoss\u00f3mica recessiva, monogen\u00e9tica e multissist\u00e9mica, estando descritas mais de 2000 muta\u00e7\u00f5es no gene da prote\u00edna CFTR. A disfun\u00e7\u00e3o desta prote\u00edna leva \u00e0 diminui\u00e7\u00e3o da secre\u00e7\u00e3o de cloro e de bicarbonato, hiperabsor\u00e7\u00e3o de s\u00f3dio e consequentemente de \u00e1gua, resultando no espessamento das secre\u00e7\u00f5es e acumula\u00e7\u00e3o de agentes patog\u00e9nicos. Estas altera\u00e7\u00f5es culminam em inflama\u00e7\u00e3o, infe\u00e7\u00e3o pulmonar cr\u00f3nica e agudiza\u00e7\u00f5es recorrentes, sendo a doen\u00e7a pulmonar a principal causa de morbilidade e mortalidade. Nas fases iniciais da doen\u00e7a, o Staphylococcus aureus \u00e9, geralmente, o agente respons\u00e1vel pela infe\u00e7\u00e3o cr\u00f3nica. Com o tempo, a Pseudomonas aeruginosa vai adquirindo um papel mais preponderante, sendo a bact\u00e9ria mais frequente nos adultos. Contudo, em at\u00e9 70% dos doentes, a coloniza\u00e7\u00e3o \u00e9 polimicrobiana, sendo frequente o isolamento de S. aureus e P. aeruginosa, associado a Haemophilus influenzae ou Streptococcus pneumoniae, bem como o isolamento de outros agentes bacterianos, v\u00edrus ou fungos. Nos \u00faltimos anos foram desenvolvidos f\u00e1rmacos moduladores da CFTR, que demonstraram efeito positivo na fun\u00e7\u00e3o pulmonar, \u00edndice de massa corporal, taxa de exacerba\u00e7\u00f5es, concentra\u00e7\u00e3o de cloro e qualidade de vida. Atualmente, est\u00e3o aprovados quatro f\u00e1rmacos que atuam melhorando a fun\u00e7\u00e3o ou aumentando a quantidade de prote\u00edna produzida e consequentemente o transporte dos i\u00f5es. [...]<\/jats:p>","DOI":"10.20344\/amp.20106","type":"journal-article","created":{"date-parts":[[2023,9,27]],"date-time":"2023-09-27T09:16:09Z","timestamp":1695806169000},"page":"826-834","source":"Crossref","is-referenced-by-count":0,"title":["O Impacto da Terap\u00eautica Moduladora da CFTR na Infe\u00e7\u00e3o Pulmonar Cr\u00f3nica em Doentes com Fibrose Qu\u00edstica"],"prefix":"10.20344","volume":"36","author":[{"given":"Joana","family":"Rodrigues","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rita","family":"Boaventura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriela","family":"Fernandes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adelina","family":"Amorim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"8464","published-online":{"date-parts":[[2023,9,23]]},"reference":[{"doi-asserted-by":"publisher","key":"4234","DOI":"10.3390\/ph14090928"},{"doi-asserted-by":"publisher","key":"4235","DOI":"10.1136\/thoraxjnl-2017-210394"},{"doi-asserted-by":"publisher","key":"4236","DOI":"10.1007\/s00431-021-04168-y"},{"doi-asserted-by":"publisher","key":"4237","DOI":"10.3390\/ijms23073513"},{"doi-asserted-by":"publisher","key":"4238","DOI":"10.3389\/fphar.2019.01662"},{"doi-asserted-by":"publisher","key":"4239","DOI":"10.1016\/S0140-6736(20)32542-3"},{"doi-asserted-by":"publisher","key":"4240","DOI":"10.2147\/PGPM.S245603"},{"doi-asserted-by":"publisher","key":"4241","DOI":"10.1007\/s40272-022-00509-y"},{"doi-asserted-by":"publisher","key":"4242","DOI":"10.1152\/ajplung.00320.2002"},{"doi-asserted-by":"publisher","key":"4243","DOI":"10.1513\/AnnalsATS.201802-149OC"},{"doi-asserted-by":"publisher","key":"4244","DOI":"10.1165\/ajrcmb.12.6.7766425"},{"doi-asserted-by":"publisher","key":"4245","DOI":"10.1152\/ajplung.1999.277.4.L694"},{"doi-asserted-by":"publisher","key":"4246","DOI":"10.1183\/09031936.04.00097503"},{"doi-asserted-by":"publisher","key":"4247","DOI":"10.1164\/ajrccm.160.1.9808096"},{"doi-asserted-by":"publisher","key":"4248","DOI":"10.1164\/ajrccm.151.4.7697234"},{"doi-asserted-by":"publisher","key":"4249","DOI":"10.1002\/ppul.19502308138"},{"doi-asserted-by":"publisher","key":"4250","DOI":"10.1203\/00006450-199308000-00010"},{"doi-asserted-by":"publisher","key":"4251","DOI":"10.1016\/S0002-9440(10)65633-7"},{"doi-asserted-by":"publisher","key":"4252","DOI":"10.1165\/ajrcmb.13.3.7544594"},{"doi-asserted-by":"publisher","key":"4253","DOI":"10.1002\/ppul.10455"},{"doi-asserted-by":"publisher","key":"4254","DOI":"10.1164\/ajrccm.150.2.8049828"},{"doi-asserted-by":"publisher","key":"4255","DOI":"10.1164\/ajrccm.150.1.7912987"},{"doi-asserted-by":"publisher","key":"4256","DOI":"10.1172\/JCI118275"},{"doi-asserted-by":"publisher","key":"4257","DOI":"10.1152\/jappl.1993.75.6.2419"},{"doi-asserted-by":"publisher","key":"4258","DOI":"10.1164\/ajrccm.152.2.7633718"},{"doi-asserted-by":"publisher","key":"4259","DOI":"10.1016\/S2213-2600(19)30337-6"},{"doi-asserted-by":"publisher","key":"4260","DOI":"10.1099\/mic.0.2006\/004077-0"},{"doi-asserted-by":"publisher","key":"4261","DOI":"10.1128\/JCM.43.5.2207-2214.2005"},{"doi-asserted-by":"publisher","key":"4262","DOI":"10.1128\/JCM.42.4.1450-1459.2004"},{"doi-asserted-by":"publisher","key":"4263","DOI":"10.1590\/S1806-37132013000400015"},{"doi-asserted-by":"publisher","key":"4264","DOI":"10.1073\/pnas.0602138103"},{"doi-asserted-by":"publisher","key":"4265","DOI":"10.2217\/17460913.2.2.153"},{"doi-asserted-by":"publisher","key":"4266","DOI":"10.1055\/s-0039-1698464"},{"doi-asserted-by":"publisher","key":"4267","DOI":"10.1016\/j.eimc.2008.05.004"},{"doi-asserted-by":"publisher","key":"4268","DOI":"10.1016\/j.ejmech.2021.113195"},{"doi-asserted-by":"publisher","key":"4269","DOI":"10.1183\/20734735.0112-2021"},{"doi-asserted-by":"publisher","key":"4270","DOI":"10.1056\/NEJMoa1709847"},{"doi-asserted-by":"publisher","key":"4271","DOI":"10.1056\/NEJMoa1908639"},{"doi-asserted-by":"publisher","key":"4272","DOI":"10.1056\/NEJMoa1105185"},{"doi-asserted-by":"publisher","key":"4273","DOI":"10.1378\/chest.11-2672"},{"doi-asserted-by":"publisher","key":"4274","DOI":"10.1056\/NEJMoa1409547"},{"doi-asserted-by":"publisher","key":"4275","DOI":"10.1056\/NEJMoa1709846"},{"doi-asserted-by":"publisher","key":"4276","DOI":"10.1016\/j.jcf.2019.06.009"},{"doi-asserted-by":"publisher","key":"4277","DOI":"10.1016\/S0140-6736(19)32597-8"},{"doi-asserted-by":"publisher","key":"4278","DOI":"10.1164\/rccm.202202-0392OC"},{"doi-asserted-by":"publisher","key":"4279","DOI":"10.1016\/j.jcf.2014.02.004"},{"doi-asserted-by":"publisher","key":"4280","DOI":"10.1111\/j.1574-6976.2010.00247.x"},{"doi-asserted-by":"publisher","key":"4281","DOI":"10.1164\/rccm.201609-1954OC"},{"doi-asserted-by":"publisher","key":"4282","DOI":"10.1128\/mbio.03148-21"},{"doi-asserted-by":"publisher","key":"4283","DOI":"10.1164\/rccm.201404-0703OC"},{"doi-asserted-by":"publisher","key":"4284","DOI":"10.1016\/j.jcf.2019.05.015"},{"doi-asserted-by":"publisher","key":"4285","DOI":"10.1513\/AnnalsATS.201902-122OC"},{"doi-asserted-by":"publisher","key":"4286","DOI":"10.1183\/23120541.00731-2020"},{"doi-asserted-by":"publisher","key":"4287","DOI":"10.1016\/j.cct.2018.07.014"},{"doi-asserted-by":"publisher","key":"4288","DOI":"10.1016\/j.jcf.2021.11.003"},{"doi-asserted-by":"publisher","key":"4289","DOI":"10.1016\/j.jcv.2020.104478"},{"doi-asserted-by":"publisher","key":"4290","DOI":"10.1542\/peds.2007-3139"},{"doi-asserted-by":"publisher","key":"4291","DOI":"10.1016\/j.jcf.2020.07.004"},{"doi-asserted-by":"publisher","key":"4292","DOI":"10.1093\/cid\/ciu385"},{"doi-asserted-by":"publisher","key":"4293","DOI":"10.3389\/fcimb.2021.548613"},{"doi-asserted-by":"publisher","key":"4294","DOI":"10.7554\/eLife.54556"},{"doi-asserted-by":"publisher","key":"4295","DOI":"10.4161\/viru.23724"},{"doi-asserted-by":"publisher","key":"4296","DOI":"10.1177\/1945892418815615"},{"doi-asserted-by":"publisher","key":"4297","DOI":"10.1016\/j.jchromb.2016.10.026"},{"doi-asserted-by":"publisher","key":"4298","DOI":"10.3389\/fcimb.2017.00470"},{"doi-asserted-by":"publisher","key":"4299","DOI":"10.3390\/biom10020334"},{"unstructured":"European Medicines Agency. Kalydeco. [consultado 2023 ago 06]. Dispon\u00edvel em: https:\/\/www.ema.europa.eu\/en\/medicines\/human\/EPAR\/kalydeco.","key":"4300"},{"unstructured":"Cystic Fibrosis Foundation. CFTR modulator therapies. [consultado 2023 ago 06]. Dispon\u00edvel em: https:\/\/www.cff.org\/managing-cf\/cftr-modulatortherapies.","key":"4301"}],"container-title":["Acta M\u00e9dica Portuguesa"],"original-title":[],"link":[{"URL":"https:\/\/www.actamedicaportuguesa.com\/revista\/index.php\/amp\/article\/download\/20106\/15275","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.actamedicaportuguesa.com\/revista\/index.php\/amp\/article\/download\/20106\/15275","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,17]],"date-time":"2025-04-17T14:22:58Z","timestamp":1744899778000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.actamedicaportuguesa.com\/revista\/index.php\/amp\/article\/view\/20106"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,9,23]]},"references-count":68,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2023,12,14]]}},"URL":"https:\/\/doi.org\/10.20344\/amp.20106","relation":{},"ISSN":["1646-0758","0870-399X"],"issn-type":[{"type":"electronic","value":"1646-0758"},{"type":"print","value":"0870-399X"}],"subject":[],"published":{"date-parts":[[2023,9,23]]}}}