title: Overcoming challenges in the management of primary ciliary dyskinesia: the UK model.
abstract: Primary ciliary dyskinesia (PCD) is an autosomal recessive disease associated with bronchiectasis, chronic rhinosinusitis, infertility and situs inversus. Estimates of prevalence vary widely, but is probably between 1:10,000- 1:40,000 in most populations. A number of observational studies indicate that access to services to diagnose and manage patients with PCD vary both between and within countries. Diagnosis is often delayed and frequently missed completely. The prognosis of patients with PCD is variable, but evidence suggests that it is improved by early diagnosis and specialist care. This article briefly reviews the literature concerning PCD and the evidence that specialist care will improve healthcare outcomes. The article specifically refers to a new national service in the UK.
authors.affiliation: Primary Ciliary Dyskinesia Centre, Southampton NIHR Respiratory Biomedical Research Unit, University Hospital Southampton NHS Foundation Trust, Southampton, UK; Clinical and Experimental Sciences Academic Unit, University of Southampton Faculty of Medicine, Southampton, UK. Electronic address: jlucas1@soton.ac.uk.
authors.forename: Jane S
authors.initials: JS
authors.lastname: Lucas
authors.affiliation: Leeds Children's Hospital, Leeds, UK.
authors.forename: Philip
authors.initials: P
authors.lastname: Chetcuti
authors.affiliation: PCD Family Support Group, UK.
authors.forename: Fiona
authors.initials: F
authors.lastname: Copeland
authors.affiliation: Primary Ciliary Dyskinesia Centre, Department of Paediatrics, Royal Brompton and Harefield Foundation Trust, London UK.
authors.forename: Claire
authors.initials: C
authors.lastname: Hogg
authors.affiliation: National Specialised Commissioning Team, London, UK.
authors.forename: Tom
authors.initials: T
authors.lastname: Kenny
authors.affiliation: Division of Services for Women and Children, Women's and Newborn Unit, Bradford Royal Infirmary, Bradford, UK.
authors.forename: Eduardo
authors.initials: E
authors.lastname: Moya
authors.affiliation: Department of Respiratory Medicine, Portex Unit, Institute of Child Health, University College London & Great Ormond Street Hospital, London, UK; Primary Ciliary Dyskinesia Centre, Leicester Royal Infirmary, Leicester, UK.
authors.forename: Christopher
authors.initials: C
authors.lastname: O'Callaghan
authors.affiliation: Primary Ciliary Dyskinesia Centre, Southampton NIHR Respiratory Biomedical Research Unit, University Hospital Southampton NHS Foundation Trust, Southampton, UK; Clinical and Experimental Sciences Academic Unit, University of Southampton Faculty of Medicine, Southampton, UK.
authors.forename: Woolf T
authors.initials: WT
authors.lastname: Walker
mesh_terms: D002648:Child; D006801:Humans; D007619:Kartagener Syndrome / Q000175:diagnosis* / Q000628:therapy*; D008962:Models, Theoretical; D006113:United Kingdom
keywords: Co-ordinated care; Equity of access; Multi-disciplinary team; Primary ciliary dyskinesia