Genetic aetiologies of bronchiectasis revisited: A new diagnosis of primary ciliary dyskinesia in adulthood

Primary ciliary dyskinesia (PCD) is an inherited condition in which ciliary motility is defective. This may manifest clinically with chronic rhinosinusitis, otitis media and recurrent lower respiratory tract infections that lead to bronchiectasis. Additionally, fertility may be reduced and situs abnormalities can occur. We present a case of a patient in whom a diagnosis of PCD was initially excluded on the basis of two negative nasal nitric oxide tests. A high index of clinical suspicion was maintained and 23 years after his initial presentation to a specialist bronchiectasis service, additional investigations including nasal brushings and genetic testing culminated in a late diagnosis of PCD.