Primary ciliary dyskinesia: when to suspect the diagnosis and how to confirm it

Primary ciliary dyskinesia (PCD) is a rare, autosomal recessive condition. The signs and symptoms are due to congenital abnormalities of ciliary structure and function, resulting in impaired mucociliary clearance. This affects the ciliated epithelium lining the nose, sinuses, Eustachian tube and airways. As a consequence, the patient typically presents with a range of features, including recurrent upper and lower respiratory tract infections, persistent glue ear and possible hearing deficit. Around half of all patients will have situs anomalies, most typically situs inversus totalis. The most significant morbidity results from the development of bronchiectasis. Access to early diagnosis and effective treatment is essential to reduce disease progression and to alleviate the burden of symptoms. This review aims to provide a clinical guide to what to look for and when to suspect the diagnosis. Recent advances in the screening and diagnostic tests available will be outlined, as well as some future directions that aim to enhance the current diagnostic techniques.