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©The Author(s) 2016. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Pediatr. Feb 8, 2016; 5(1): 57-62
Published online Feb 8, 2016. doi: 10.5409/wjcp.v5.i1.57
Published online Feb 8, 2016. doi: 10.5409/wjcp.v5.i1.57
Clinical spectrum of primary ciliary dyskinesia in childhood
Andrew Fretzayas, Maria Moustaki, 3rd Department of Pediatrics, “Attikon” University Hospital, Athens University, School of Medicine, 12462 Athens, Greece
Author contributions: Fretzayas A contributed to the writing of the manuscript and critically revised the paper; Moustaki M wrote the initial draft.
Conflict-of-interest statement: No conflict of interest to be declared by the authors.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Correspondence to: Andrew Fretzayas, MD, PhD, Emeritus Professor of Pediatrics, 3rd Department of Pediatrics, “Attikon” University Hospital, Athens University, School of Medicine, 1 Rimini Str, Haidari, 12462 Athens, Greece. mar.moustaki@gmail.com
Telephone: +30-210-5831299 Fax: +30-210-5832229
Received: July 20, 2015
Peer-review started: July 23, 2015
First decision: October 13, 2015
Revised: November 13, 2015
Accepted: December 7, 2015
Article in press: December 8, 2015
Published online: February 8, 2016
Peer-review started: July 23, 2015
First decision: October 13, 2015
Revised: November 13, 2015
Accepted: December 7, 2015
Article in press: December 8, 2015
Published online: February 8, 2016
Core Tip
Core tip: The clinical spectrum of primary ciliary dyskinesia (PCD) has been recently better understood through the evolution of electron microscopy techniques, molecular genetics and imaging of the respiratory tract. Herein, we highlight the clinical profile of the disease from infancy to adolescence, focusing on clinical studies of children with a laboratory confirmed diagnosis of PCD. Additionally, the currently recognized associations of the type of ciliary ultrastructure defects and involved mutated genes with the clinical spectrum of the disease are presented. This information is of interest for the paediatrician in order to conduct a timely investigation of children with symptoms suggestive of PCD.