RT Journal Article
SR Electronic
T1 Diagnosis and management of primary ciliary dyskinesia
JF Archives of Disease in Childhood
JO Arch Dis Child
FD BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
SP 850
OP 856
DO 10.1136/archdischild-2013-304831
VO 99
IS 9
A1 Jane S Lucas
A1 Andrea Burgess
A1 Hannah M Mitchison
A1 Eduardo Moya
A1 Michael Williamson
A1 Claire Hogg
YR 2014
UL http://adc.bmj.com/content/99/9/850.abstract
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.