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

Clinical care for primary ciliary dyskinesia: current challenges and future directions
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 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.
0905-9180
Rubbo, Bruna
dc31cd48-3d84-41ab-a8b8-351c9914dca4
Lucas, Jane
5cb3546c-87b2-4e59-af48-402076e25313
Rubbo, Bruna
dc31cd48-3d84-41ab-a8b8-351c9914dca4
Lucas, Jane
5cb3546c-87b2-4e59-af48-402076e25313

Rubbo, Bruna and Lucas, Jane (2017) Clinical care for primary ciliary dyskinesia: current challenges and future directions. European Respiratory Review, 26 (145). (doi:10.1183/16000617.0023-2017).

Record type: Article

Abstract

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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More information

Accepted/In Press date: 13 June 2017
e-pub ahead of print date: 6 September 2017
Published date: 30 September 2017
Organisations: Clinical & Experimental Sciences

Identifiers

Local EPrints ID: 411783
URI: https://eprints.soton.ac.uk/id/eprint/411783
ISSN: 0905-9180
PURE UUID: 68c2ef28-671c-49ca-ac4d-d47249b4915f
ORCID for Bruna Rubbo: ORCID iD orcid.org/0000-0002-1629-8601

Catalogue record

Date deposited: 26 Jun 2017 16:30
Last modified: 03 Dec 2019 06:01

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