• Jane S Lucas, Andrea Burgess, Hannah M Mitchison, Eduardo Moya, Michael Williamson, Claire Hogg, and National PCD Service, UK.
• Primary Ciliary Dyskinesia Centre, Southampton Children's Hospital, Southampton NHS Foundation Trust, Southampton, UK Clinical and Experimental Sciences Academic Unit, University of Southampton Faculty of Medicine, Southampton, UK.
• Arch. Dis. Child. 2014 Sep 1;99(9):850-6.

AbstractPrimary 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.Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

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