17th February 2025

Primary ciliary dyskinesia (PCD)

This is a rare autosomal recessive condition characterised by abnormal movement of the cilia lining the respiratory tract (upper and lower), ear, fallopian tubes and sperm flagella. The abnormal ciliary movements reduce mucociliary clearance, increasing likelihood of infections.

Features include recurrent chest infection and bronchiectasis, sinusitis, hearing loss and subfertility or infertility.

There is no gold-standard diagnostic test for primary ciliary dyskinesia, however nasal nitric oxide testing, which is very low in people with PCD, is the most specific and sensitive screening test. If this is positive, a ciliary biopsy can also confirm the diagnosis by assessing the cilial beat pattern and frequency under a microscope. Genetic testing can also aid diagnosis. 

Kartagener’s syndrome

Approximately 50% of people with PCD have associated dextrocardia or situs inversus, as cilia also helps to determine organ siting. This is known as Kartagener’s syndrome.