Diagnosis of primary ciliary dyskinesia

Detalhes bibliográficos
Autor(a) principal: Olm,Mary Anne Kowal
Data de Publicação: 2015
Outros Autores: Caldini,Elia Garcia, Mauad,Thais
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Jornal Brasileiro de Pneumologia (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1806-37132015000300251
Resumo: Primary ciliary dyskinesia (PCD) is a genetic disorder of ciliary structure or function. It results in mucus accumulation and bacterial colonization of the respiratory tract which leads to chronic upper and lower airway infections, organ laterality defects, and fertility problems. We review the respiratory signs and symptoms of PCD, as well as the screening tests for and diagnostic investigation of the disease, together with details related to ciliary function, ciliary ultrastructure, and genetic studies. In addition, we describe the difficulties in diagnosing PCD by means of transmission electron microscopy, as well as describing patient follow-up procedures.
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spelling Diagnosis of primary ciliary dyskinesiaKartagener SyndromeCiliaMucociliary clearanceCiliary motility disordersDiagnosisPrimary ciliary dyskinesia (PCD) is a genetic disorder of ciliary structure or function. It results in mucus accumulation and bacterial colonization of the respiratory tract which leads to chronic upper and lower airway infections, organ laterality defects, and fertility problems. We review the respiratory signs and symptoms of PCD, as well as the screening tests for and diagnostic investigation of the disease, together with details related to ciliary function, ciliary ultrastructure, and genetic studies. In addition, we describe the difficulties in diagnosing PCD by means of transmission electron microscopy, as well as describing patient follow-up procedures.Sociedade Brasileira de Pneumologia e Tisiologia2015-06-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1806-37132015000300251Jornal Brasileiro de Pneumologia v.41 n.3 2015reponame:Jornal Brasileiro de Pneumologia (Online)instname:Sociedade Brasileira de Pneumologia e Tisiologia (SBPT)instacron:SBPT10.1590/S1806-37132015000004447info:eu-repo/semantics/openAccessOlm,Mary Anne KowalCaldini,Elia GarciaMauad,Thaiseng2015-07-06T00:00:00Zoai:scielo:S1806-37132015000300251Revistahttp://www.jornaldepneumologia.com.br/default.aspONGhttps://old.scielo.br/oai/scielo-oai.php||jbp@jbp.org.br|| jpneumo@jornaldepneumologia.com.br1806-37561806-3713opendoar:2015-07-06T00:00Jornal Brasileiro de Pneumologia (Online) - Sociedade Brasileira de Pneumologia e Tisiologia (SBPT)false
dc.title.none.fl_str_mv Diagnosis of primary ciliary dyskinesia
title Diagnosis of primary ciliary dyskinesia
spellingShingle Diagnosis of primary ciliary dyskinesia
Olm,Mary Anne Kowal
Kartagener Syndrome
Cilia
Mucociliary clearance
Ciliary motility disorders
Diagnosis
title_short Diagnosis of primary ciliary dyskinesia
title_full Diagnosis of primary ciliary dyskinesia
title_fullStr Diagnosis of primary ciliary dyskinesia
title_full_unstemmed Diagnosis of primary ciliary dyskinesia
title_sort Diagnosis of primary ciliary dyskinesia
author Olm,Mary Anne Kowal
author_facet Olm,Mary Anne Kowal
Caldini,Elia Garcia
Mauad,Thais
author_role author
author2 Caldini,Elia Garcia
Mauad,Thais
author2_role author
author
dc.contributor.author.fl_str_mv Olm,Mary Anne Kowal
Caldini,Elia Garcia
Mauad,Thais
dc.subject.por.fl_str_mv Kartagener Syndrome
Cilia
Mucociliary clearance
Ciliary motility disorders
Diagnosis
topic Kartagener Syndrome
Cilia
Mucociliary clearance
Ciliary motility disorders
Diagnosis
description Primary ciliary dyskinesia (PCD) is a genetic disorder of ciliary structure or function. It results in mucus accumulation and bacterial colonization of the respiratory tract which leads to chronic upper and lower airway infections, organ laterality defects, and fertility problems. We review the respiratory signs and symptoms of PCD, as well as the screening tests for and diagnostic investigation of the disease, together with details related to ciliary function, ciliary ultrastructure, and genetic studies. In addition, we describe the difficulties in diagnosing PCD by means of transmission electron microscopy, as well as describing patient follow-up procedures.
publishDate 2015
dc.date.none.fl_str_mv 2015-06-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1806-37132015000300251
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1806-37132015000300251
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S1806-37132015000004447
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Sociedade Brasileira de Pneumologia e Tisiologia
publisher.none.fl_str_mv Sociedade Brasileira de Pneumologia e Tisiologia
dc.source.none.fl_str_mv Jornal Brasileiro de Pneumologia v.41 n.3 2015
reponame:Jornal Brasileiro de Pneumologia (Online)
instname:Sociedade Brasileira de Pneumologia e Tisiologia (SBPT)
instacron:SBPT
instname_str Sociedade Brasileira de Pneumologia e Tisiologia (SBPT)
instacron_str SBPT
institution SBPT
reponame_str Jornal Brasileiro de Pneumologia (Online)
collection Jornal Brasileiro de Pneumologia (Online)
repository.name.fl_str_mv Jornal Brasileiro de Pneumologia (Online) - Sociedade Brasileira de Pneumologia e Tisiologia (SBPT)
repository.mail.fl_str_mv ||jbp@jbp.org.br|| jpneumo@jornaldepneumologia.com.br
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