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Diagnosis and management of primary ciliary dyskinesia.

Diagnosis and management of primary ciliary dyskinesia.
Diagnosis and management of primary ciliary dyskinesia.
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.
0003-9888
Lucas, Jane S.
5cb3546c-87b2-4e59-af48-402076e25313
Burgess, Andrea
5f0c861d-1a20-4afa-b1e2-156c175dcadd
Mitchison, Hannah M.
3e88e1ba-29d9-4243-8531-d13e66fa1e01
Moya, Eduardo
975edff7-ef6f-4de2-a6e5-b72ad321a02b
Williamson, Michael
319b5e95-e483-4217-90a6-ea0940b0fb61
Hogg, Claire
78881fd2-dbe9-4c28-b050-3387c163df1e
Lucas, Jane S.
5cb3546c-87b2-4e59-af48-402076e25313
Burgess, Andrea
5f0c861d-1a20-4afa-b1e2-156c175dcadd
Mitchison, Hannah M.
3e88e1ba-29d9-4243-8531-d13e66fa1e01
Moya, Eduardo
975edff7-ef6f-4de2-a6e5-b72ad321a02b
Williamson, Michael
319b5e95-e483-4217-90a6-ea0940b0fb61
Hogg, Claire
78881fd2-dbe9-4c28-b050-3387c163df1e

Lucas, Jane S., Burgess, Andrea, Mitchison, Hannah M., Moya, Eduardo, Williamson, Michael and Hogg, Claire (2014) Diagnosis and management of primary ciliary dyskinesia. Archives of Disease in Childhood. (doi:10.1136/archdischild-2013-304831). (PMID:24771309)

Record type: Article

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.

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Published date: 25 April 2014
Organisations: Clinical & Experimental Sciences

Identifiers

Local EPrints ID: 364610
URI: https://eprints.soton.ac.uk/id/eprint/364610
ISSN: 0003-9888
PURE UUID: 1b2b042d-14a9-4885-b100-ebc932978e44

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Date deposited: 02 May 2014 10:22
Last modified: 09 Sep 2019 18:44

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