Diagnosing primary ciliary dyskinesia in Australian adults: 10 years of testing

Primary ciliary dyskinesia (PCD) is a rare inherited disorder characterised by impaired ciliary function, leading to chronic upper and lower airway disease from early life. Limited awareness of the condition contributes to delayed diagnosis, with some individuals first diagnosed in adulthood following specialised testing. We describe 91 adults referred to the PCD diagnostic service at the Royal Children's Hospital in Melbourne, Australia over a 10-year period. Twenty-eight adults were diagnosed with PCD (31% referrals). The most common reason for referral was bronchiectasis. These findings highlight the importance of considering PCD in adults presenting with features suggestive of chronic airway disease, particularly bronchiectasis.