Diagnosis and management of primary ciliary dyskinesia.
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 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.
Jane S
JS
Lucas
Primary Ciliary Dyskinesia Centre, Southampton Children's Hospital, Southampton NHS Foundation Trust, Southampton, UK.
Andrea
A
Burgess
Molecular Medicine Unit and Birth Defects Research Centre, University College London (UCL) Institute of Child Health, London, UK.
Hannah M
HM
Mitchison
Division of Services for Women and Children, Women's and Newborn Unit, Primary Ciliary Dyskinesia Centre, Bradford Royal Infirmary, Bradford, UK.
Eduardo
E
Moya
Primary Ciliary Dyskinesia Centre, Leicester Royal Infirmary, Leicester, UK.
Michael
M
Williamson
Department of Paediatrics, Primary Ciliary Dyskinesia Centre, Royal Brompton and Harefield Foundation Trust, London, UK.
Claire
C
Hogg
D002923:Cilia / Q000473:pathology*; D003937:Diagnosis, Differential; D005820:Genetic Testing; D006801:Humans; D007619:Kartagener Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy
Kartagener syndrome; ciliary motility disorders; diagnosis; primary ciliary dyskinesia; treatment