Diagnosis of primary ciliary dyskinesia

Diagnosis of primary ciliary dyskinesia

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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Main Authors: Olm,Mary Anne Kowal, Caldini,Elia Garcia, Mauad,Thais
Format: Digital revista
Language:English
Published: Sociedade Brasileira de Pneumologia e Tisiologia 2015
Online Access:http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1806-37132015000300251
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spelling oai:scielo:S1806-371320150003002512015-07-06Diagnosis of primary ciliary dyskinesiaOlm,Mary Anne KowalCaldini,Elia GarciaMauad,Thais Kartagener Syndrome Cilia Mucociliary clearance Ciliary motility disorders Diagnosis 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.info:eu-repo/semantics/openAccessSociedade Brasileira de Pneumologia e TisiologiaJornal Brasileiro de Pneumologia v.41 n.3 20152015-06-01info:eu-repo/semantics/articletext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1806-37132015000300251en10.1590/S1806-37132015000004447
institution SCIELO
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country Brasil
countrycode BR
component Revista
access En linea
databasecode rev-scielo-br
tag revista
region America del Sur
libraryname SciELO
language English
format Digital
author Olm,Mary Anne Kowal
Caldini,Elia Garcia
Mauad,Thais
spellingShingle Olm,Mary Anne Kowal
Caldini,Elia Garcia
Mauad,Thais
Diagnosis of primary ciliary dyskinesia
author_facet Olm,Mary Anne Kowal
Caldini,Elia Garcia
Mauad,Thais
author_sort Olm,Mary Anne Kowal
title Diagnosis of primary ciliary dyskinesia
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
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.
publisher Sociedade Brasileira de Pneumologia e Tisiologia
publishDate 2015
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1806-37132015000300251
work_keys_str_mv AT olmmaryannekowal diagnosisofprimaryciliarydyskinesia
AT caldinieliagarcia diagnosisofprimaryciliarydyskinesia
AT mauadthais diagnosisofprimaryciliarydyskinesia
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