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Clinical care for primary ciliary dyskinesia: current challenges and future directions

Primary ciliary dyskinesia (PCD) is a rare genetic disease that affects the motility of cilia, leading to impaired mucociliary clearance. It is estimated that the vast majority of patients with PCD have not been diagnosed as such, providing a major obstacle to delivering appropriate care. Challenges...

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Detalles Bibliográficos
Autores principales: Rubbo, Bruna, Lucas, Jane S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: European Respiratory Society 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9489029/
https://www.ncbi.nlm.nih.gov/pubmed/28877972
http://dx.doi.org/10.1183/16000617.0023-2017
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author Rubbo, Bruna
Lucas, Jane S.
author_facet Rubbo, Bruna
Lucas, Jane S.
author_sort Rubbo, Bruna
collection PubMed
description Primary ciliary dyskinesia (PCD) is a rare genetic disease that affects the motility of cilia, leading to impaired mucociliary clearance. It is estimated that the vast majority of patients with PCD have not been diagnosed as such, providing a major obstacle to delivering appropriate care. Challenges in diagnosing PCD include lack of disease-specific symptoms and absence of a single, “gold standard”, diagnostic test. Management of patients is currently not based on high-level evidence because research findings are mostly derived from small observational studies with limited follow-up period. In this review, we provide a critical overview of the available literature on clinical care for PCD patients, including recent advances. We identify barriers to PCD research and make suggestions for overcoming challenges.
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spelling pubmed-94890292022-11-14 Clinical care for primary ciliary dyskinesia: current challenges and future directions Rubbo, Bruna Lucas, Jane S. Eur Respir Rev Reviews Primary ciliary dyskinesia (PCD) is a rare genetic disease that affects the motility of cilia, leading to impaired mucociliary clearance. It is estimated that the vast majority of patients with PCD have not been diagnosed as such, providing a major obstacle to delivering appropriate care. Challenges in diagnosing PCD include lack of disease-specific symptoms and absence of a single, “gold standard”, diagnostic test. Management of patients is currently not based on high-level evidence because research findings are mostly derived from small observational studies with limited follow-up period. In this review, we provide a critical overview of the available literature on clinical care for PCD patients, including recent advances. We identify barriers to PCD research and make suggestions for overcoming challenges. European Respiratory Society 2017-09-06 /pmc/articles/PMC9489029/ /pubmed/28877972 http://dx.doi.org/10.1183/16000617.0023-2017 Text en Copyright ©ERS 2017. https://creativecommons.org/licenses/by-nc/4.0/ERR articles are open access and distributed under the terms of the Creative Commons Attribution Non-Commercial Licence 4.0.
spellingShingle Reviews
Rubbo, Bruna
Lucas, Jane S.
Clinical care for primary ciliary dyskinesia: current challenges and future directions
title Clinical care for primary ciliary dyskinesia: current challenges and future directions
title_full Clinical care for primary ciliary dyskinesia: current challenges and future directions
title_fullStr Clinical care for primary ciliary dyskinesia: current challenges and future directions
title_full_unstemmed Clinical care for primary ciliary dyskinesia: current challenges and future directions
title_short Clinical care for primary ciliary dyskinesia: current challenges and future directions
title_sort clinical care for primary ciliary dyskinesia: current challenges and future directions
topic Reviews
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9489029/
https://www.ncbi.nlm.nih.gov/pubmed/28877972
http://dx.doi.org/10.1183/16000617.0023-2017
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