The University of Southampton
University of Southampton Institutional Repository

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. (eds.) Orphan Lung Diseases. Lausanne, CH, European Respiratory Society pp. 201-217. (European Respiratory Society Monograph, 54). (doi:10.1183/1025448x.10008310).

Record type: Book Section

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.

Full text not available from this repository.

More information

Published date: December 2011
Organisations: Clinical & Experimental Sciences

Identifiers

Local EPrints ID: 205345
URI: http://eprints.soton.ac.uk/id/eprint/205345
PURE UUID: ad779085-a8cf-4576-b33a-e83140d08457

Catalogue record

Date deposited: 06 Dec 2011 12:19
Last modified: 27 Sep 2017 16:32

Export record

Altmetrics

Contributors

Author: J.S.A. Lucas
Author: W.T. Walker
Author: C.E. Kuehni
Author: R. Lazor
Editor: J-F. Cordier

University divisions

Download statistics

Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.

View more statistics

Atom RSS 1.0 RSS 2.0

Contact ePrints Soton: eprints@soton.ac.uk

ePrints Soton supports OAI 2.0 with a base URL of http://eprints.soton.ac.uk/cgi/oai2

This repository has been built using EPrints software, developed at the University of Southampton, but available to everyone to use.

We use cookies to ensure that we give you the best experience on our website. If you continue without changing your settings, we will assume that you are happy to receive cookies on the University of Southampton website.

×