PT  - JOURNAL ARTICLE
AU  - Jane S Lucas
AU  - Andrea Burgess
AU  - Hannah M Mitchison
AU  - Eduardo Moya
AU  - Michael Williamson
AU  - Claire Hogg
TI  - Diagnosis and management of primary ciliary dyskinesia
AID  - 10.1136/archdischild-2013-304831
DP  - 2014 Sep 01
TA  - Archives of Disease in Childhood
PG  - 850--856
VI  - 99
IP  - 9
4099  - http://adc.bmj.com/content/99/9/850.short
4100  - http://adc.bmj.com/content/99/9/850.full
SO  - Arch Dis Child2014 Sep 01; 99
AB  - 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.