Please use this identifier to cite or link to this item:
Title: Primary ciliary dyskinesia: current state of the art.
Authors: Bush, A
Chodhari, R
Collins, N
Copeland, F
Hall, P
Harcourt, J
Hariri, M
Hogg, C
Lucas, J
Mitchison, HM
O'Callaghan, C
Phillips, G
First Published: Dec-2007
Citation: ARCH DIS CHILD, 2007, 92 (12), pp. 1136-1140
Abstract: Primary ciliary dyskinesia (PCD) is usually inherited as an autosomal recessive disorder and presents with upper and lower respiratory tract infection, and mirror image arrangement in around 50% of cases. Cilia dysfunction is also implicated in a wider spectrum of disease, including polycystic liver and kidney disease, central nervous system problems including retinopathy and hydrocephalus, and biliary atresia. Cilia are complex structures, containing more than 250 proteins; recent studies have begun to locate PCD genes scattered throughout the genome. Screening tests for PCD include nasal nitric oxide and in vivo tests of ciliary motility such as the saccharin test. Specific diagnosis requires examination of cilia by light and electron microscopy, with epithelial culture in doubtful cases. This is only available in supra-regional centres, recently centrally funded by the National Commissioning Group. Treatment is not evidence based and recommendations are largely extrapolated from cystic fibrosis and other suppurative lung diseases.
DOI Link: 10.1136/adc.2006.096958
eISSN: 1468-2044
Type: Journal Article
Appears in Collections:Published Articles, Dept. of Infection, Immunity and Inflammation

Files in This Item:
There are no files associated with this item.

Items in LRA are protected by copyright, with all rights reserved, unless otherwise indicated.