Work

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

Year: 2026

Type: article

Abstract: • Primary ciliary dyskinesia (PCD) is a disorder of ciliary structure and function that typically presents with a recurrent productive cough, sinus chronic rhinosinusitis and otitis media from the newborn period onwards. Additional features may include situs inversus and reduced fertility. • PCD should be remembered as a potential genetic aetiology of bronchiectasis. • Nasal nitric oxide is a useful initial investigation. A normal value should not exclude the diagnosis in patients in whom there is otherwise a high degree of clinical suspicion. • Further testing includes high-speed video microscopy analysis. The next line of investigation to confirm a diagnosis of PCD is with electron microscopy before proceeding to genetic testing. • Clinical management involves specialist care by a PCD multidisciplinary team and requires both effective airway and sinus clearance management as well as prompt initiation of antibiotics when infections arise. 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.

Source: Clinical Medicine

DOI: 10.1016/j.clinme.2026.100553

Authors: Dylan Riley, Kartik Kumar, Janet M. Stowell