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Primary ciliary dyskinesia: current state of the art
  1. Andrew Bush1,
  2. Rahul Chodhari2,
  3. Nicola Collins1,
  4. Fiona Copeland3,
  5. Pippa Hall1,
  6. Jonny Harcourt4,
  7. Mohamed Hariri5,
  8. Claire Hogg1,
  9. Jane Lucas6,
  10. Hannah M Mitchison7,
  11. Christopher O’Callaghan8,
  12. Gill Phillips9
  1. 1
    Royal Brompton Hospital, London, UK
  2. 2
    Great Ormond Street Hospital, London, UK
  3. 3
    Primary Ciliary Dyskinesia Family Support Group, UK
  4. 4
    Chelsea and Westminster Hospital, London, UK
  5. 5
    Charing Cross Hospital, London, UK
  6. 6
    Chest Medicine, Southampton University Hospitals NHS Trust, Southampton, UK
  7. 7
    General and Adolescent Paediatric Unit, UCL Institute of Child Health, London, UK
  8. 8
    Leicester Royal Infirmary and University of Leicester, Leicester, UK
  9. 9
    Faculty of Health, Leeds Metropolitan University, Leeds, UK
  1. Andrew Bush, Department of Paediatric Respiratory Medicine, Royal Brompton Hospital, Sydney Street, London SW3 6NP, UK; a.bush{at}


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.

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  • Competing interests: None declared.

  • Abbreviations:
    active cycle of breathing technique
    cystic fibrosis
    National Commissioning Group
    nitric oxide
    otitis media with effusion
    primary ciliary dyskinesia
    positive expiratory pressure