Overcoming challenges in the management of primary ciliary dyskinesia: the UK model

Jane S Lucas; Philip Chetcuti; Fiona Copeland; Claire Hogg; Tom Kenny; Eduardo Moya; Christopher O'Callaghan; Woolf T Walker

doi:10.1016/j.prrv.2013.04.007

Overcoming challenges in the management of primary ciliary dyskinesia: the UK model

Paediatr Respir Rev. 2014 Jun;15(2):142-5. doi: 10.1016/j.prrv.2013.04.007. Epub 2013 Jun 12.

Authors

Jane S Lucas¹, Philip Chetcuti², Fiona Copeland³, Claire Hogg⁴, Tom Kenny⁵, Eduardo Moya⁶, Christopher O'Callaghan⁷, Woolf T Walker⁸

Affiliations

¹ 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: [email protected].
² Leeds Children's Hospital, Leeds, UK.
³ PCD Family Support Group, UK.
⁴ Primary Ciliary Dyskinesia Centre, Department of Paediatrics, Royal Brompton and Harefield Foundation Trust, London UK.
⁵ National Specialised Commissioning Team, London, UK.
⁶ Division of Services for Women and Children, Women's and Newborn Unit, Bradford Royal Infirmary, Bradford, UK.
⁷ 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.
⁸ 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.

PMID: 23764568
DOI: 10.1016/j.prrv.2013.04.007

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.

Keywords: Co-ordinated care; Equity of access; Multi-disciplinary team; Primary ciliary dyskinesia.

Publication types

Review

MeSH terms

Child
Humans
Kartagener Syndrome / diagnosis*
Kartagener Syndrome / therapy*
Models, Theoretical
Vereinigtes Königreich