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Primary Ciliary Dyskinesia
Background
Primary Ciliary Dyskinesia: PCD
Primary ciliary dyskinesia is a relatively rare genetic condition. Several genes for the condition have been found, and more are being sought. The prevalence is almost certainly underestimated. Late diagnosis is common, as are mild cases picked up by screening siblings of an index case. Even given a prevalence of 1 in 15,000, there will be around seventy new cases born per year, and three thousand cases in the UK in total. The diagnosis has implications for many aspects of upper and lower respiratory tract disease, in particular the avoidance of inappropriate ear nose and throat (ENT) procedures and the assessment and treatment of deafness.
A diagnosis of PCD should be considered under a number of circumstances; no one feature is an absolute indication, and a combination of signs and symptoms may be more suggestive than one single indication on its own.
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