Chapter 12. Primary ciliary dyskinesia


Lucas, J.S.A., Walker, W.T., Kuehni, C.E. and Lazor, R. (2011) Chapter 12. Primary ciliary dyskinesia. In, Cordier, J-F. (ed.) Orphan Lung Diseases. Lausanne, CH, European Respiratory Society, 201-217. (European Respiratory Society Monograph, 54). (doi:10.1183/1025448x.10008310).

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Description/Abstract

Primary ciliary dyskinesia (PCD) is an autosomal recessive disease with an incidence estimated between 1:2,000 and 1:40,000. Ciliated epithelia line the airways, nasal and sinus cavities, Eustachian tube and fallopian tubes. Congenital abnormalities of ciliary structure and function impair mucociliary clearance. As a consequence, patients present with chronic sinopulmonary infections, recurrent glue ear and female subfertility. Similarities in the ultrastructure of respiratory cilia, nodal cilia and sperm result in patients with PCD also presenting with male infertility, abnormalities of left-right asymmetry (most commonly situs inversus totalis) and congenital heart disease. Early diagnosis is essential to ensure specialist management of the respiratory and otological complications of PCD. Diagnostic tests focus on analysis of ciliary function and electron microscopy structure. Analysis is technically difficult and labour intensive. It requires expertise for interpretation, restricting diagnosis to specialist centres. Management is currently based on the consensus of experts, and there is a pressing need for randomised clinical trials to inform treatment.

Item Type: Book Section
Subjects: R Medicine > RB Pathology
R Medicine > RF Otorhinolaryngology
Divisions: Faculty of Medicine > Infection, Inflammation and Immunity
ePrint ID: 205345
Date Deposited: 06 Dec 2011 12:19
Last Modified: 27 Mar 2014 19:48
URI: http://eprints.soton.ac.uk/id/eprint/205345

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