Ciliary dyskinesias: primary ciliary dyskinesia in adults

Primary ciliary dyskinesia (PCD) is a genetic disorder of cilia structure and function, chronic infections of the respiratory tract, fertility problems and disorders of organ laterality. Establishing a definitive diagnosis can be challenging, requiring a compatible phenotype and detection of ciliary functional and ultra-structural defects, along with newer screening tools such as nasal nitric oxide and genetics testing. 10 known PCDcausing mutations within two genes are now available in a clinical panel, and in the future, comprehensive genetic testing may serve to identify young infants with PCD to improve the long-term outlook for patients with the disease. Therapy includes regular pulmonary function testing and monitoring of sputum flora to allow a targeted approach to treatment. Referral to an academic centre with expertise in bronchiectasis and/or PCD is prudent to ensure access to the most recent diagnostic testing and therapies. With increased understanding of the disease it is likely that we will expand the definitions of classic and non-classic PCD, as well as its relationship to less common ciliopathies.