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Primary ciliary dyskinesia

Primary ciliary dyskinesia
Primary ciliary dyskinesia
Primary ciliary dyskinesia (PCD) is a genetically and clinically heterogeneous lung disease. Dysfunction of motile cilia causes impaired mucociliary function. Patients typically present with neonatal respiratory distress of unknown cause, persistent daily wet cough, perennial rhinosinusitis, otitis media and bronchiectasis; 50% of patients have situs inversus. In this chapter we review the underlying genetics of PCD, and how this leads to progressive disease. We discuss what is known about the prevalence, natural history and risk factors for less favourable outcomes. We review current diagnostic and management strategies. Finally, we discuss future directions to maintain the trajectory of evidence.
Elsevier
Mennella, Vito
43c60e29-c0a7-4ab8-8e5c-fcb59f70a28a
Jackson, Claire
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Driessens, Corine
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Horton, Katie Leanne
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Lucas, Jane
5cb3546c-87b2-4e59-af48-402076e25313
Cunningham, Steven
Mennella, Vito
43c60e29-c0a7-4ab8-8e5c-fcb59f70a28a
Jackson, Claire
64cdd6fa-74c3-4ac6-94ef-070620a6efd9
Driessens, Corine
59335f14-4ead-4692-9969-7ed9cc1ccf08
Horton, Katie Leanne
0e8b1fe0-65ae-41d2-815e-d8ee76ee9433
Lucas, Jane
5cb3546c-87b2-4e59-af48-402076e25313
Cunningham, Steven

Mennella, Vito, Jackson, Claire, Driessens, Corine, Horton, Katie Leanne and Lucas, Jane (2020) Primary ciliary dyskinesia. In, Cunningham, Steven (ed.) Encyclopedia of Respiratory Medicine. 2nd ed. Elsevier. (In Press)

Record type: Book Section

Abstract

Primary ciliary dyskinesia (PCD) is a genetically and clinically heterogeneous lung disease. Dysfunction of motile cilia causes impaired mucociliary function. Patients typically present with neonatal respiratory distress of unknown cause, persistent daily wet cough, perennial rhinosinusitis, otitis media and bronchiectasis; 50% of patients have situs inversus. In this chapter we review the underlying genetics of PCD, and how this leads to progressive disease. We discuss what is known about the prevalence, natural history and risk factors for less favourable outcomes. We review current diagnostic and management strategies. Finally, we discuss future directions to maintain the trajectory of evidence.

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More information

Accepted/In Press date: 17 June 2020

Identifiers

Local EPrints ID: 443295
URI: http://eprints.soton.ac.uk/id/eprint/443295
PURE UUID: 49e82222-e482-4a35-b484-0061dd09e654
ORCID for Vito Mennella: ORCID iD orcid.org/0000-0002-4842-9012

Catalogue record

Date deposited: 20 Aug 2020 16:30
Last modified: 21 Aug 2020 01:52

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Contributors

Author: Vito Mennella ORCID iD
Author: Claire Jackson
Author: Corine Driessens
Author: Katie Leanne Horton
Author: Jane Lucas
Editor: Steven Cunningham

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