Primary ciliary dyskinesia

Primary ciliary dyskinesia (PCD) is a genetic condition characterised by a variety of ciliary ultrastructural defects that result in cilia that are either stationary or beat in a dyskinetic fashion. Ineffective ciliary movement impairs mucociliary clearance resulting in mucus retention. This predisposes to recurrent chest infections, which may progress to bronchiectasis.PCD can present in infancy or late adulthood due to varying patterns of symptoms. Kartageners syndrome accounts for approximately 40% of patients. Late diagnosis is common despite symptoms of a daily moist cough and nasal discharge from the neonatal period.PCD is associated with a progressive decline in lung function associated with the development of widespread bronchiectasis. Early diagnosis followed by meticulous follow-up, antibiotic therapy and physiotherapy may halt this. With optimal treatment the prognosis is good. Diagnosis of PCD requires the evaluation of ciliary beat frequency, beat pattern and ultrastructural analysis of nasal ciliated epithelium. There are now three National Specialist commissioning Advisory Group (NSCAG)-funded centres established for the diagnosis of PCD.