Article Text

Download PDFPDF

Diagnosis and management of primary ciliary dyskinesia
  1. Jane S Lucas1,2,
  2. Andrea Burgess1,
  3. Hannah M Mitchison3,
  4. Eduardo Moya4,
  5. Michael Williamson5,
  6. Claire Hogg6
  7. on behalf of the National PCD Service, UK
  1. 1Primary Ciliary Dyskinesia Centre, Southampton Children's Hospital, Southampton NHS Foundation Trust, Southampton, UK
  2. 2Clinical and Experimental Sciences Academic Unit, University of Southampton Faculty of Medicine, Southampton, UK
  3. 3Molecular Medicine Unit and Birth Defects Research Centre, University College London (UCL) Institute of Child Health, London, UK
  4. 4Division of Services for Women and Children, Women's and Newborn Unit, Primary Ciliary Dyskinesia Centre, Bradford Royal Infirmary, Bradford, UK
  5. 5Primary Ciliary Dyskinesia Centre, Leicester Royal Infirmary, Leicester, UK
  6. 6Department of Paediatrics, Primary Ciliary Dyskinesia Centre, Royal Brompton and Harefield Foundation Trust, London, UK
  1. Correspondence to Dr Jane Lucas, PCD Centre, Clinical and Experimental Sciences Academic Unit (Mail Point 803), University of Southampton Faculty of Medicine, University Hospital Southampton NHS Foundation Trust, Tremona Road, Southampton, SO16 6YD; jlucas1{at}


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.

  • primary ciliary dyskinesia
  • Kartagener syndrome
  • treatment
  • diagnosis
  • ciliary motility disorders

This is an Open Access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 3.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See:

View Full Text

Statistics from

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.