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Ciliated conical epithelial cell protrusions point towards a diagnosis of primary ciliary dyskinesia

O'Callaghan, C; Rutman, A; Williams, G; Kulkarni, N; Hayes, J; Hirst, RA; (2018) Ciliated conical epithelial cell protrusions point towards a diagnosis of primary ciliary dyskinesia. Respiratory Research , 19 , Article 125. 10.1186/s12931-018-0782-3. Green open access

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Abstract

Background Primary ciliary dyskinesia can result from a number of different ciliary defects that adversely affect ciliary function resulting markedly reduced or absent mucociliary clearance. Improvement in diagnostic testing is an area of current research. During diagnostic evaluation of PCD we observed ciliated conical protrusions from part of the apical surface of ciliated cells in those diagnosed with PCD. The aim of this study was to investigate if this abnormality was specific to PCD. Methods Epithelial edges from 67 consecutively diagnosed PCD patients, 67 patients consecutively referred for PCD diagnostic testing in whom PCD was excluded, 22 with asthma and 18 with Cystic Fibrosis (CF) were studied retrospectively in a blinded manner using light microscopy. Results Forty six out of 67 patients with PCD had ciliated conical epithelial protrusions, whereas none were seen in patients where PCD was excluded, or in patients with asthma or CF. The sensitivity, specificity, positive predictive value and negative predictive value for the presence of the ciliated conical protrusions to predict a diagnosis of PCD were 76.5, 100, 100 and 77% respectively. Conclusions Characteristic ciliated conical protrusions from ciliated epithelial cells maybe a useful pointer to the diagnosis of PCD. However, their absence does not exclude the diagnosis of PCD.

Type: Article
Title: Ciliated conical epithelial cell protrusions point towards a diagnosis of primary ciliary dyskinesia
Open access status: An open access version is available from UCL Discovery
DOI: 10.1186/s12931-018-0782-3
Publisher version: https://doi.org/10.1186/s12931-018-0782-3
Language: English
Additional information: This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/
Keywords: Science & Technology, Life Sciences & Biomedicine, Respiratory System, Respiratory cilia, PCD, Asthma, Severe asthma, Cystic fibrosis, Diagnostic testing, Primary ciliary dyskinesia, BEAT FREQUENCY, CHILDREN, PATTERN
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Infection, Immunity and Inflammation Dept
URI: https://discovery.ucl.ac.uk/id/eprint/10052670
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