Mucoviscidosis with respiratory symptomatology in the neonatal period.
Autor(a) principal: | |
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Data de Publicação: | 1997 |
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/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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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 |
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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) 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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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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1799130630088294400 |