Mucoviscidosis with respiratory symptomatology in the neonatal period.

Detalhes bibliográficos
Autor(a) principal: Lamy, S
Data de Publicação: 1997
Outros Autores: da Silva, L P, Lopes, B, Pacheco, P, Lavinha, J, Amaral, J M, Marques, J M
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/2392
Resumo: A case of cystic fibrosis presented in the neonatal period with respiratory symptomatology associated with early pancreatic insufficiency is reported. The CFTR gene molecular analysis was found to be a compound heterozygotes for delta F508 and G542X. The rarity of this mode of presentation and the inclusion of this entity in the differential diagnosis for neonatal respiratory distress syndrome is emphasised. The pathogenesis and some therapeutic aspects carried out in our patient, which might have improved the life expectancy of patients with this disease, are discussed.
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spelling Mucoviscidosis with respiratory symptomatology in the neonatal period.Mucoviscidose com sintomatologia respiratória no período neonatal.A case of cystic fibrosis presented in the neonatal period with respiratory symptomatology associated with early pancreatic insufficiency is reported. The CFTR gene molecular analysis was found to be a compound heterozygotes for delta F508 and G542X. The rarity of this mode of presentation and the inclusion of this entity in the differential diagnosis for neonatal respiratory distress syndrome is emphasised. The pathogenesis and some therapeutic aspects carried out in our patient, which might have improved the life expectancy of patients with this disease, are discussed.A case of cystic fibrosis presented in the neonatal period with respiratory symptomatology associated with early pancreatic insufficiency is reported. The CFTR gene molecular analysis was found to be a compound heterozygotes for delta F508 and G542X. The rarity of this mode of presentation and the inclusion of this entity in the differential diagnosis for neonatal respiratory distress syndrome is emphasised. The pathogenesis and some therapeutic aspects carried out in our patient, which might have improved the life expectancy of patients with this disease, are discussed.Ordem dos Médicos1997-03-30info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttps://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/2392oai:ojs.www.actamedicaportuguesa.com:article/2392Acta Médica Portuguesa; Vol. 10 No. 2-3 (1997): Fevereiro-Março; 209-12Acta Médica Portuguesa; Vol. 10 N.º 2-3 (1997): Fevereiro-Março; 209-121646-07580870-399Xreponame: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/2392https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/2392/1807Lamy, Sda Silva, L PLopes, BPacheco, PLavinha, JAmaral, J MMarques, J Minfo:eu-repo/semantics/openAccess2022-12-20T11:00:28Zoai:ojs.www.actamedicaportuguesa.com:article/2392Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T16:17:43.139653Repositório 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 Mucoviscidosis with respiratory symptomatology in the neonatal period.
Mucoviscidose com sintomatologia respiratória no período neonatal.
title Mucoviscidosis with respiratory symptomatology in the neonatal period.
spellingShingle Mucoviscidosis with respiratory symptomatology in the neonatal period.
Lamy, S
title_short Mucoviscidosis with respiratory symptomatology in the neonatal period.
title_full Mucoviscidosis with respiratory symptomatology in the neonatal period.
title_fullStr Mucoviscidosis with respiratory symptomatology in the neonatal period.
title_full_unstemmed Mucoviscidosis with respiratory symptomatology in the neonatal period.
title_sort Mucoviscidosis with respiratory symptomatology in the neonatal period.
author Lamy, S
author_facet Lamy, S
da Silva, L P
Lopes, B
Pacheco, P
Lavinha, J
Amaral, J M
Marques, J M
author_role author
author2 da Silva, L P
Lopes, B
Pacheco, P
Lavinha, J
Amaral, J M
Marques, J M
author2_role author
author
author
author
author
author
dc.contributor.author.fl_str_mv Lamy, S
da Silva, L P
Lopes, B
Pacheco, P
Lavinha, J
Amaral, J M
Marques, J M
description A case of cystic fibrosis presented in the neonatal period with respiratory symptomatology associated with early pancreatic insufficiency is reported. The CFTR gene molecular analysis was found to be a compound heterozygotes for delta F508 and G542X. The rarity of this mode of presentation and the inclusion of this entity in the differential diagnosis for neonatal respiratory distress syndrome is emphasised. The pathogenesis and some therapeutic aspects carried out in our patient, which might have improved the life expectancy of patients with this disease, are discussed.
publishDate 1997
dc.date.none.fl_str_mv 1997-03-30
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/2392
oai:ojs.www.actamedicaportuguesa.com:article/2392
url https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/2392
identifier_str_mv oai:ojs.www.actamedicaportuguesa.com:article/2392
dc.language.iso.fl_str_mv por
language por
dc.relation.none.fl_str_mv https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/2392
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/2392/1807
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Ordem dos Médicos
publisher.none.fl_str_mv Ordem dos Médicos
dc.source.none.fl_str_mv Acta Médica Portuguesa; Vol. 10 No. 2-3 (1997): Fevereiro-Março; 209-12
Acta Médica Portuguesa; Vol. 10 N.º 2-3 (1997): Fevereiro-Março; 209-12
1646-0758
0870-399X
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
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instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
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reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
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repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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