The Impact of CFTR Modulating Therapy on Chronic Lung Infection in Patients with Cystic Fibrosis
Autor(a) principal: | |
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Data de Publicação: | 2023 |
Outros Autores: | , , |
Tipo de documento: | Artigo |
Idioma: | por |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/20106 |
Resumo: | Cystic fibrosis is the most common lethal genetic disease in the white population, affecting approximately 80 000 people worldwide. It is an autosomal recessive, monogenic, and multisystemic disease, with over 2000 mutations described in the CFTR protein gene. The dysfunction of this protein leads to a decrease in the secretion of chlorine and bicarbonate, sodium hyperabsorption, and consequent water absorption, resulting in the thickening of secretions and accumulation of pathogens. These changes culminate in inflammation, chronic pulmonary infection, and recurrent exacerbations, with lung disease being the main cause of morbidity and mortality. In the early stages of the disease, Staphylococcus aureus is generally the agent responsible for chronic infection. Over time, Pseudomonas aeruginosa becomes more prevalent, being the most frequent bacteria in adults. However, in up to 70% of patients, colonization is polymicrobial, with frequent isolation of S. aureus and P. aeruginosa, associated with Haemophilus influenzae or Streptococcus pneumoniae, as well as isolation of other bacterial agents, viruses, or fungi. In recent years, drugs modulating CFTR have been developed which have shown a positive effect on lung function, body mass index, exacerbation rate, chlorine concentration, and quality of life. Currently, four drugs are approved that act by improving the function or increasing the amount of protein produced and consequently the ion transport. [...] |
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The Impact of CFTR Modulating Therapy on Chronic Lung Infection in Patients with Cystic FibrosisO Impacto da Terapêutica Moduladora da CFTR na Infeção Pulmonar Crónica em Doentes com Fibrose QuísticaCystic Fibrosis Transmembrane Conductance Regulator/therapeuticCystic Fibrosis/drug therapyRespiratory Tract Infections/drug therapyFibrose Quística/tratamento farmacológicoInfecções Respiratórias/tratamento farmacológicoRegulador de Condutância Transmembrana em Fibrose Quística/uso terapêuticoCystic fibrosis is the most common lethal genetic disease in the white population, affecting approximately 80 000 people worldwide. It is an autosomal recessive, monogenic, and multisystemic disease, with over 2000 mutations described in the CFTR protein gene. The dysfunction of this protein leads to a decrease in the secretion of chlorine and bicarbonate, sodium hyperabsorption, and consequent water absorption, resulting in the thickening of secretions and accumulation of pathogens. These changes culminate in inflammation, chronic pulmonary infection, and recurrent exacerbations, with lung disease being the main cause of morbidity and mortality. In the early stages of the disease, Staphylococcus aureus is generally the agent responsible for chronic infection. Over time, Pseudomonas aeruginosa becomes more prevalent, being the most frequent bacteria in adults. However, in up to 70% of patients, colonization is polymicrobial, with frequent isolation of S. aureus and P. aeruginosa, associated with Haemophilus influenzae or Streptococcus pneumoniae, as well as isolation of other bacterial agents, viruses, or fungi. In recent years, drugs modulating CFTR have been developed which have shown a positive effect on lung function, body mass index, exacerbation rate, chlorine concentration, and quality of life. Currently, four drugs are approved that act by improving the function or increasing the amount of protein produced and consequently the ion transport. [...]A fibrose quística é a doença genética letal mais comum na população branca, afetando aproximadamente 80 000 pessoas em todo o mundo. É uma doença autossómica recessiva, monogenética e multissistémica, estando descritas mais de 2000 mutações no gene da proteína CFTR. A disfunção desta proteína leva à diminuição da secreção de cloro e de bicarbonato, hiperabsorção de sódio e consequentemente de água, resultando no espessamento das secreções e acumulação de agentes patogénicos. Estas alterações culminam em inflamação, infeção pulmonar crónica e agudizações recorrentes, sendo a doença pulmonar a principal causa de morbilidade e mortalidade. Nas fases iniciais da doença, o Staphylococcus aureus é, geralmente, o agente responsável pela infeção crónica. Com o tempo, a Pseudomonas aeruginosa vai adquirindo um papel mais preponderante, sendo a bactéria mais frequente nos adultos. Contudo, em até 70% dos doentes, a colonização é 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, vírus ou fungos. Nos últimos anos foram desenvolvidos fármacos moduladores da CFTR, que demonstraram efeito positivo na função pulmonar, índice de massa corporal, taxa de exacerbações, concentração de cloro e qualidade de vida. Atualmente, estão aprovados quatro fármacos que atuam melhorando a função ou aumentando a quantidade de proteína produzida e consequentemente o transporte dos iões. [...]Ordem dos Médicos2023-09-23info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttps://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/20106Acta Médica Portuguesa; Vol. 36 No. 12 (2023): December; 826-834Acta Médica Portuguesa; Vol. 36 N.º 12 (2023): Dezembro; 826-8341646-07580870-399Xreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAPporhttps://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/20106https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/20106/15275Direitos de Autor (c) 2023 Acta Médica Portuguesainfo:eu-repo/semantics/openAccessRodrigues, JoanaBoaventura, RitaFernandes, GabrielaAmorim, Adelina2023-12-17T03:00:30Zoai:ojs.www.actamedicaportuguesa.com:article/20106Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T20:31:54.408430Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
The Impact of CFTR Modulating Therapy on Chronic Lung Infection in Patients with Cystic Fibrosis O Impacto da Terapêutica Moduladora da CFTR na Infeção Pulmonar Crónica em Doentes com Fibrose Quística |
title |
The Impact of CFTR Modulating Therapy on Chronic Lung Infection in Patients with Cystic Fibrosis |
spellingShingle |
The Impact of CFTR Modulating Therapy on Chronic Lung Infection in Patients with Cystic Fibrosis Rodrigues, Joana Cystic Fibrosis Transmembrane Conductance Regulator/therapeutic Cystic Fibrosis/drug therapy Respiratory Tract Infections/drug therapy Fibrose Quística/tratamento farmacológico Infecções Respiratórias/tratamento farmacológico Regulador de Condutância Transmembrana em Fibrose Quística/uso terapêutico |
title_short |
The Impact of CFTR Modulating Therapy on Chronic Lung Infection in Patients with Cystic Fibrosis |
title_full |
The Impact of CFTR Modulating Therapy on Chronic Lung Infection in Patients with Cystic Fibrosis |
title_fullStr |
The Impact of CFTR Modulating Therapy on Chronic Lung Infection in Patients with Cystic Fibrosis |
title_full_unstemmed |
The Impact of CFTR Modulating Therapy on Chronic Lung Infection in Patients with Cystic Fibrosis |
title_sort |
The Impact of CFTR Modulating Therapy on Chronic Lung Infection in Patients with Cystic Fibrosis |
author |
Rodrigues, Joana |
author_facet |
Rodrigues, Joana Boaventura, Rita Fernandes, Gabriela Amorim, Adelina |
author_role |
author |
author2 |
Boaventura, Rita Fernandes, Gabriela Amorim, Adelina |
author2_role |
author author author |
dc.contributor.author.fl_str_mv |
Rodrigues, Joana Boaventura, Rita Fernandes, Gabriela Amorim, Adelina |
dc.subject.por.fl_str_mv |
Cystic Fibrosis Transmembrane Conductance Regulator/therapeutic Cystic Fibrosis/drug therapy Respiratory Tract Infections/drug therapy Fibrose Quística/tratamento farmacológico Infecções Respiratórias/tratamento farmacológico Regulador de Condutância Transmembrana em Fibrose Quística/uso terapêutico |
topic |
Cystic Fibrosis Transmembrane Conductance Regulator/therapeutic Cystic Fibrosis/drug therapy Respiratory Tract Infections/drug therapy Fibrose Quística/tratamento farmacológico Infecções Respiratórias/tratamento farmacológico Regulador de Condutância Transmembrana em Fibrose Quística/uso terapêutico |
description |
Cystic fibrosis is the most common lethal genetic disease in the white population, affecting approximately 80 000 people worldwide. It is an autosomal recessive, monogenic, and multisystemic disease, with over 2000 mutations described in the CFTR protein gene. The dysfunction of this protein leads to a decrease in the secretion of chlorine and bicarbonate, sodium hyperabsorption, and consequent water absorption, resulting in the thickening of secretions and accumulation of pathogens. These changes culminate in inflammation, chronic pulmonary infection, and recurrent exacerbations, with lung disease being the main cause of morbidity and mortality. In the early stages of the disease, Staphylococcus aureus is generally the agent responsible for chronic infection. Over time, Pseudomonas aeruginosa becomes more prevalent, being the most frequent bacteria in adults. However, in up to 70% of patients, colonization is polymicrobial, with frequent isolation of S. aureus and P. aeruginosa, associated with Haemophilus influenzae or Streptococcus pneumoniae, as well as isolation of other bacterial agents, viruses, or fungi. In recent years, drugs modulating CFTR have been developed which have shown a positive effect on lung function, body mass index, exacerbation rate, chlorine concentration, and quality of life. Currently, four drugs are approved that act by improving the function or increasing the amount of protein produced and consequently the ion transport. [...] |
publishDate |
2023 |
dc.date.none.fl_str_mv |
2023-09-23 |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/20106 |
url |
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/20106 |
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por |
language |
por |
dc.relation.none.fl_str_mv |
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/20106 https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/20106/15275 |
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Direitos de Autor (c) 2023 Acta Médica Portuguesa info:eu-repo/semantics/openAccess |
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Direitos de Autor (c) 2023 Acta Médica Portuguesa |
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openAccess |
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application/pdf |
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Ordem dos Médicos |
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Ordem dos Médicos |
dc.source.none.fl_str_mv |
Acta Médica Portuguesa; Vol. 36 No. 12 (2023): December; 826-834 Acta Médica Portuguesa; Vol. 36 N.º 12 (2023): Dezembro; 826-834 1646-0758 0870-399X reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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RCAAP |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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