Fatal respiratory disease due to a homozygous intronic ABCA3 mutation: A case report

Pulmonary surfactant is a complex mixture of lipids and proteins. Mutations in surfactant protein-C, surfactant protein-D, and adenosine triphosphate-binding cassette subfamily A member 3 have been related to surfactant dysfunction and neonatal respiratory failure in full-term babies. Adenosine trip...

Full description

Autores:
Padilla, Iván
Duarte, Duarte
Pachajoa Londoño, Harry Mauricio
Ruiz Botero, Felipe
Meza-Escobar, Luis Enrique
Villota Delgado, Vania Alexandra
Ballesteros, Adriana
Tipo de recurso:
Article of investigation
Fecha de publicación:
2016
Institución:
Universidad ICESI
Repositorio:
Repositorio ICESI
Idioma:
eng
OAI Identifier:
oai:repository.icesi.edu.co:10906/81642
Acceso en línea:
http://hdl.handle.net/10906/81642
http://dx.doi.org/10.1186/s13256-016-1027-z
Palabra clave:
Medical sciences
Birth defect
Ciencias socio biomédicas
Enfermedad respiratoria
Insuficiencia respiratoria
Recién nacido
Genética en niños
Rights
openAccess
License
https://creativecommons.org/licenses/by-nc-nd/4.0/
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repository_id_str
spelling Padilla, IvánDuarte, DuartePachajoa Londoño, Harry MauricioRuiz Botero, FelipeMeza-Escobar, Luis EnriqueVillota Delgado, Vania AlexandraBallesteros, Adrianahmpachajoa@icesi.edu.coLondres de Lat: 51 30 51 N degrees minutes Lat: 51.5141 decimal degrees Long: 000 05 37 W degrees minutes Long: -0.0937 decimal degrees2017-06-08T14:31:13Z2017-06-08T14:31:13Z2016-09-261752-1947http://hdl.handle.net/10906/81642http://dx.doi.org/10.1186/s13256-016-1027-zinstname:Universidad Icesireponame:Biblioteca Digitalrepourl:https://repository.icesi.edu.co/Pulmonary surfactant is a complex mixture of lipids and proteins. Mutations in surfactant protein-C, surfactant protein-D, and adenosine triphosphate-binding cassette subfamily A member 3 have been related to surfactant dysfunction and neonatal respiratory failure in full-term babies. Adenosine triphosphate-binding cassette subfamily A member 3 facilitates the transfer of lipids to lamellar bodies. We report the case of patient with a homozygous intronic ABCA3 mutation. Case presentation: We describe a newborn full-term Colombian baby boy who was the son of non-consanguineous parents of mixed race ancestry (Mestizo), who was delivered with severe respiratory depression. Invasive treatment was unsuccessful and diagnosis was uncertain6 páginasDigitalapplication/pdfengBioMed CentralFacultad Ciencias de la SaludMedicinaDepartamento de Ciencias Básicas MédicasLondresJournal of Medical Case Reports, Vol.10, No.1 - 201616EL AUTOR, expresa que la obra objeto de la presente autorización es original y la elaboró sin quebrantar ni suplantar los derechos de autor de terceros, y de tal forma, la obra es de su exclusiva autoría y tiene la titularidad sobre éste. PARÁGRAFO: en caso de queja o acción por parte de un tercero referente a los derechos de autor sobre el artículo, folleto o libro en cuestión, EL AUTOR, asumirá la responsabilidad total, y saldrá en defensa de los derechos aquí autorizados; para todos los efectos, la Universidad Icesi actúa como un tercero de buena fe. Esta autorización, permite a la Universidad Icesi, de forma indefinida, para que en los términos establecidos en la Ley 23 de 1982, la Ley 44 de 1993, leyes y jurisprudencia vigente al respecto, haga publicación de este con fines educativos. Toda persona que consulte ya sea la biblioteca o en medio electrónico podrá copiar apartes del texto citando siempre la fuentes, es decir el título del trabajo y el autor.https://creativecommons.org/licenses/by-nc-nd/4.0/info:eu-repo/semantics/openAccessAtribución-NoComercial-SinDerivadas 4.0 Internacional (CC BY-NC-ND 4.0)http://purl.org/coar/access_right/c_abf2Fatal respiratory disease due to a homozygous intronic ABCA3 mutation: A case reportComunidad Universidad Icesi – Investigadores101Medical sciencesBirth defectCiencias socio biomédicasEnfermedad respiratoriaInsuficiencia respiratoriaRecién nacidoGenética en niñoshttp://purl.org/coar/resource_type/c_2df8fbb1Artículoinfo:eurepo/semantics/publishedVersioninfo:eu-repo/semantics/articleTEXTpachajoa_fatal_respiratory_2016.pdf.txtpachajoa_fatal_respiratory_2016.pdf.txttext/plain23908https://repository.icesi.edu.co/bitstreams/5f9b8cf2-93f1-7785-e053-2cc003c84dc5/downloadaaa415953a78777b8766aa3b3ac50bd0MD52ORIGINALpachajoa_fatal_respiratory_2016.pdfpachajoa_fatal_respiratory_2016.pdfapplication/pdf666155https://repository.icesi.edu.co/bitstreams/5f9b8cf2-93eb-7785-e053-2cc003c84dc5/download2bd4bc9fbe6f950731b43299b99b8592MD5110906/81642oai:repository.icesi.edu.co:10906/816422017-09-07 05:22:35.741https://creativecommons.org/licenses/by-nc-nd/4.0/Atribución-NoComercial-SinDerivadas 4.0 Internacional (CC BY-NC-ND 4.0)open.accesshttps://repository.icesi.edu.coBiblioteca Digital - Universidad Icesiadquisicion-bib@listas.icesi.edu.co
dc.title.spa.fl_str_mv Fatal respiratory disease due to a homozygous intronic ABCA3 mutation: A case report
title Fatal respiratory disease due to a homozygous intronic ABCA3 mutation: A case report
spellingShingle Fatal respiratory disease due to a homozygous intronic ABCA3 mutation: A case report
Medical sciences
Birth defect
Ciencias socio biomédicas
Enfermedad respiratoria
Insuficiencia respiratoria
Recién nacido
Genética en niños
title_short Fatal respiratory disease due to a homozygous intronic ABCA3 mutation: A case report
title_full Fatal respiratory disease due to a homozygous intronic ABCA3 mutation: A case report
title_fullStr Fatal respiratory disease due to a homozygous intronic ABCA3 mutation: A case report
title_full_unstemmed Fatal respiratory disease due to a homozygous intronic ABCA3 mutation: A case report
title_sort Fatal respiratory disease due to a homozygous intronic ABCA3 mutation: A case report
dc.creator.fl_str_mv Padilla, Iván
Duarte, Duarte
Pachajoa Londoño, Harry Mauricio
Ruiz Botero, Felipe
Meza-Escobar, Luis Enrique
Villota Delgado, Vania Alexandra
Ballesteros, Adriana
dc.contributor.author.spa.fl_str_mv Padilla, Iván
Duarte, Duarte
Pachajoa Londoño, Harry Mauricio
Ruiz Botero, Felipe
Meza-Escobar, Luis Enrique
Villota Delgado, Vania Alexandra
Ballesteros, Adriana
dc.subject.proposal.eng.fl_str_mv Medical sciences
Birth defect
topic Medical sciences
Birth defect
Ciencias socio biomédicas
Enfermedad respiratoria
Insuficiencia respiratoria
Recién nacido
Genética en niños
dc.subject.proposal.spa.fl_str_mv Ciencias socio biomédicas
Enfermedad respiratoria
Insuficiencia respiratoria
dc.subject.proposal.none.fl_str_mv Recién nacido
Genética en niños
description Pulmonary surfactant is a complex mixture of lipids and proteins. Mutations in surfactant protein-C, surfactant protein-D, and adenosine triphosphate-binding cassette subfamily A member 3 have been related to surfactant dysfunction and neonatal respiratory failure in full-term babies. Adenosine triphosphate-binding cassette subfamily A member 3 facilitates the transfer of lipids to lamellar bodies. We report the case of patient with a homozygous intronic ABCA3 mutation. Case presentation: We describe a newborn full-term Colombian baby boy who was the son of non-consanguineous parents of mixed race ancestry (Mestizo), who was delivered with severe respiratory depression. Invasive treatment was unsuccessful and diagnosis was uncertain
publishDate 2016
dc.date.issued.none.fl_str_mv 2016-09-26
dc.date.accessioned.none.fl_str_mv 2017-06-08T14:31:13Z
dc.date.available.none.fl_str_mv 2017-06-08T14:31:13Z
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dc.type.local.spa.fl_str_mv Artículo
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dc.identifier.issn.none.fl_str_mv 1752-1947
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dc.identifier.doi.none.fl_str_mv http://dx.doi.org/10.1186/s13256-016-1027-z
dc.identifier.instname.none.fl_str_mv instname:Universidad Icesi
dc.identifier.reponame.none.fl_str_mv reponame:Biblioteca Digital
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identifier_str_mv 1752-1947
instname:Universidad Icesi
reponame:Biblioteca Digital
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url http://hdl.handle.net/10906/81642
http://dx.doi.org/10.1186/s13256-016-1027-z
dc.language.iso.eng.fl_str_mv eng
language eng
dc.relation.ispartof.none.fl_str_mv Journal of Medical Case Reports, Vol.10, No.1 - 2016
dc.relation.citationstartpage.none.fl_str_mv 1
dc.relation.citationendpage.none.fl_str_mv 6
dc.rights.uri.none.fl_str_mv https://creativecommons.org/licenses/by-nc-nd/4.0/
dc.rights.accessrights.spa.fl_str_mv info:eu-repo/semantics/openAccess
dc.rights.license.none.fl_str_mv Atribución-NoComercial-SinDerivadas 4.0 Internacional (CC BY-NC-ND 4.0)
dc.rights.coar.none.fl_str_mv http://purl.org/coar/access_right/c_abf2
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-nd/4.0/
Atribución-NoComercial-SinDerivadas 4.0 Internacional (CC BY-NC-ND 4.0)
http://purl.org/coar/access_right/c_abf2
eu_rights_str_mv openAccess
dc.format.extent.spa.fl_str_mv 6 páginas
dc.format.medium.spa.fl_str_mv Digital
dc.format.mimetype.none.fl_str_mv application/pdf
dc.coverage.spatial.none.fl_str_mv Londres de Lat: 51 30 51 N degrees minutes Lat: 51.5141 decimal degrees Long: 000 05 37 W degrees minutes Long: -0.0937 decimal degrees
dc.publisher.spa.fl_str_mv BioMed Central
dc.publisher.faculty.spa.fl_str_mv Facultad Ciencias de la Salud
dc.publisher.program.spa.fl_str_mv Medicina
dc.publisher.department.spa.fl_str_mv Departamento de Ciencias Básicas Médicas
dc.publisher.place.none.fl_str_mv Londres
institution Universidad ICESI
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