Cargando…
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...
Autores principales: | , |
---|---|
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 |
_version_ | 1784792790728704000 |
---|---|
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. |
format | Online Article Text |
id | pubmed-9489029 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | European Respiratory Society |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT rubbobruna clinicalcareforprimaryciliarydyskinesiacurrentchallengesandfuturedirections AT lucasjanes clinicalcareforprimaryciliarydyskinesiacurrentchallengesandfuturedirections |