Primary ciliary dyskinesia

Details

Serval ID
serval:BIB_02D76A3E6CFD
Type
A part of a book
Publication sub-type
Chapter: chapter ou part
Collection
Publications
Institution
Title
Primary ciliary dyskinesia
Title of the book
Orphan Lung Diseases
Author(s)
Lucas J.S.A., Walker W.T., Kuehni C.E., Lazor R.
Publisher
European Respiratory Society
Address of publication
Plymouth
ISBN
978-1-84984-013-2
Publication state
Published
Issued date
2011
Editor
Cordier J.F.
Volume
54
Series
European Respiratory Society Monograph
Chapter
12
Pages
201-2017
Language
english
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.
Create date
20/03/2012 23:34
Last modification date
20/08/2019 12:24
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