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.
Mennella, Vito
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Jackson, Claire
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Driessens, Corine
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Horton, Katie Leanne
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Lucas, Jane
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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
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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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
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Date deposited: 20 Aug 2020 16:30
Last modified: 14 Mar 2024 02:59
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Contributors
Author:
Claire Jackson
Author:
Corine Driessens
Author:
Katie Leanne Horton
Editor:
Steven Cunningham
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