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...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
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European Respiratory Society
2017-09-01
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| Series: | European Respiratory Review |
| Online Access: | http://err.ersjournals.com/content/26/145/170023.full |
| _version_ | 1811309811419054080 |
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| author | Bruna Rubbo Jane S. Lucas |
| author_facet | Bruna Rubbo Jane S. Lucas |
| author_sort | Bruna Rubbo |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-04-13T09:47:33Z |
| format | Article |
| id | doaj.art-700323f248da44a0ab6b39c050d18022 |
| institution | Directory Open Access Journal |
| issn | 0905-9180 1600-0617 |
| language | English |
| last_indexed | 2024-04-13T09:47:33Z |
| publishDate | 2017-09-01 |
| publisher | European Respiratory Society |
| record_format | Article |
| series | European Respiratory Review |
| spelling | doaj.art-700323f248da44a0ab6b39c050d180222022-12-22T02:51:41ZengEuropean Respiratory SocietyEuropean Respiratory Review0905-91801600-06172017-09-012614510.1183/16000617.0023-20170023-2017Clinical care for primary ciliary dyskinesia: current challenges and future directionsBruna Rubbo0Jane S. Lucas1 Primary Ciliary Dyskinesia Centre, NIHR Biomedical Research Centre, University of Southampton, Southampton, UK Primary Ciliary Dyskinesia Centre, NIHR Biomedical Research Centre, University of Southampton, Southampton, UK 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.http://err.ersjournals.com/content/26/145/170023.full |
| spellingShingle | Bruna Rubbo Jane S. Lucas Clinical care for primary ciliary dyskinesia: current challenges and future directions European Respiratory Review |
| 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 |
| url | http://err.ersjournals.com/content/26/145/170023.full |
| work_keys_str_mv | AT brunarubbo clinicalcareforprimaryciliarydyskinesiacurrentchallengesandfuturedirections AT janeslucas clinicalcareforprimaryciliarydyskinesiacurrentchallengesandfuturedirections |