Primary ciliary dyskinesia

Primary ciliary dyskinesia (PCD) is an inherited condition characterised by functional and/or structural congenital abnormalities of cilia. Presentation is often in the neonatal period, but there are age-related differences in presentation, and diagnosis is often delayed. The usual clinical picture is of recurrent upper and lower respiratory symptoms (rhinitis, glue ear, recurrent cough and sputum production), with mirror image arrangement in 50% of the children. Around 50% males have immotile sperm, but male infertility is not invariable. There are known associations between PCD and complex congenital heart disease, severe oesophageal disease, and more rarely, hydrocephalus and biliary atresia. Diagnosis is with a combination of the saccharine test, nasal nitric oxide, ciliary beat frequency and electron microscopy. Patients should be followed up by specialists familiar with the different ways of managing the upper and lower airway complications.