eprintid: 1455887
rev_number: 31
eprint_status: archive
userid: 608
dir: disk0/01/45/58/87
datestamp: 2014-11-14 21:25:40
lastmod: 2021-12-13 01:42:23
status_changed: 2014-11-14 21:25:39
type: article
metadata_visibility: show
item_issues_count: 0
creators_name: Lucas, JS
creators_name: Burgess, A
creators_name: Mitchison, HM
creators_name: Moya, E
creators_name: Williamson, M
creators_name: Hogg, C
creators_name: National PCD Service, UK, .
title: Diagnosis and management of primary ciliary dyskinesia.
ispublished: pub
divisions: UCL
divisions: B02
divisions: D13
divisions: G23
keywords: Kartagener syndrome, ciliary motility disorders, diagnosis, primary ciliary dyskinesia, treatment, Cilia, Diagnosis, Differential, Genetic Testing, Humans, Kartagener Syndrome
note: This is an Open Access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 3.0) 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/3.0/
abstract: Primary ciliary dyskinesia (PCD) is an inherited autosomal-recessive disorder of motile cilia characterised by chronic lung disease, rhinosinusitis, hearing impairment and subfertility. Nasal symptoms and respiratory distress usually start soon after birth, and by adulthood bronchiectasis is invariable. Organ laterality defects, usually situs inversus, occur in ∼50% of cases. The estimated prevalence of PCD is up to ∼1 per 10,000 births, but it is more common in populations where consanguinity is common. This review examines who to refer for diagnostic testing. It describes the limitations surrounding diagnosis using currently available techniques and considers whether recent advances to genotype patients with PCD will lead to genetic testing and screening to aid diagnosis in the near future. It discusses the challenges of monitoring and treating respiratory and ENT disease in children with PCD.
date: 2014-09
official_url: http://dx.doi.org/10.1136/archdischild-2013-304831
oa_status: green
full_text_type: pub
language: eng
primo: open
primo_central: open_green
article_type_text: Journal Article, Research Support, Non-U.S. Gov't, Review
verified: verified_manual
elements_source: PubMed
elements_id: 943689
doi: 10.1136/archdischild-2013-304831
pii: archdischild-2013-304831
language_elements: ENG
lyricists_name: Mitchison, Hannah
lyricists_id: HMMIT79
full_text_status: public
publication: Arch Dis Child
volume: 99
number: 9
pagerange: 850 - 856
event_location: England
citation:        Lucas, JS;    Burgess, A;    Mitchison, HM;    Moya, E;    Williamson, M;    Hogg, C;    National PCD Service, UK, .;      (2014)    Diagnosis and management of primary ciliary dyskinesia.                   Arch Dis Child , 99  (9)   850 - 856.    10.1136/archdischild-2013-304831 <https://doi.org/10.1136/archdischild-2013-304831>.       Green open access   
 
document_url: https://discovery.ucl.ac.uk/id/eprint/1455887/1/850.full.pdf