title: Primary ciliary dyskinesia: current state of the art.
abstract: Primary ciliary dyskinesia (PCD) is usually inherited as an autosomal recessive disorder and presents with upper and lower respiratory tract infection, and mirror image arrangement in around 50% of cases. Cilia dysfunction is also implicated in a wider spectrum of disease, including polycystic liver and kidney disease, central nervous system problems including retinopathy and hydrocephalus, and biliary atresia. Cilia are complex structures, containing more than 250 proteins; recent studies have begun to locate PCD genes scattered throughout the genome. Screening tests for PCD include nasal nitric oxide and in vivo tests of ciliary motility such as the saccharin test. Specific diagnosis requires examination of cilia by light and electron microscopy, with epithelial culture in doubtful cases. This is only available in supra-regional centres, recently centrally funded by the National Commissioning Group. Treatment is not evidence based and recommendations are largely extrapolated from cystic fibrosis and other suppurative lung diseases.
authors.affiliation: Department of Paediatric Respiratory Medicine, Royal Brompton Hospital, London, UK. a.bush@rbh.nthames.nhs.uk
authors.forename: Andrew
authors.initials: A
authors.lastname: Bush
authors.forename: Rahul
authors.initials: R
authors.lastname: Chodhari
authors.forename: Nicola
authors.initials: N
authors.lastname: Collins
authors.forename: Fiona
authors.initials: F
authors.lastname: Copeland
authors.forename: Pippa
authors.initials: P
authors.lastname: Hall
authors.forename: Jonny
authors.initials: J
authors.lastname: Harcourt
authors.forename: Mohamed
authors.initials: M
authors.lastname: Hariri
authors.forename: Claire
authors.initials: C
authors.lastname: Hogg
authors.forename: Jane
authors.initials: J
authors.lastname: Lucas
authors.forename: Hannah M
authors.initials: HM
authors.lastname: Mitchison
authors.forename: Christopher
authors.initials: C
authors.lastname: O'Callaghan
authors.forename: Gill
authors.initials: G
authors.lastname: Phillips
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002923:Cilia / Q000502:physiology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007619:Kartagener Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D009894:Opportunistic Infections / Q000150:complications / Q000628:therapy; D012120:Respiration Disorders / Q000175:diagnosis / Q000628:therapy