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Diagnosis and management of primary ciliary dyskinesia.

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. Green open access

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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.

Type: Article
Title: Diagnosis and management of primary ciliary dyskinesia.
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1136/archdischild-2013-304831
Publisher version: http://dx.doi.org/10.1136/archdischild-2013-304831
Language: English
Additional information: 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/
Keywords: Kartagener syndrome, ciliary motility disorders, diagnosis, primary ciliary dyskinesia, treatment, Cilia, Diagnosis, Differential, Genetic Testing, Humans, Kartagener Syndrome
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 > Genetics and Genomic Medicine Dept
URI: https://discovery.ucl.ac.uk/id/eprint/1455887
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