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Primary ciliary dyskinesia: Aetiology, diagnosis and clinical management
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Journal Article
Primary ciliary dyskinesia: Aetiology, diagnosis and clinical management
2025
Overview
•Recent improvements in genetic testing have shown a greatly increased prevalence of PCD, suggesting a significant cohort of undiagnosed patients.•PCD should be considered in individuals with a history neonatal respiratory distress, a chronic productive cough, chronic rhinosinusitis and organ laterality defects.•Diagnosis of PCD is contingent on identifying specific clinical symptoms and investigations such as nasal nitric oxide, ciliary microscopy and genetic testing.•Clinical management should focus on airway clearance and robust treatment of acute infections.
Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterised by abnormal function of motile cilia. The condition usually manifests in early life with neonatal distress, chronic sinopulmonary disease and organ laterality disorders. In adults, it is an underdiagnosed cause of bronchiectasis as well as subfertility. This review provides an overview of PCD for clinicians. We discuss its aetiology, its presentation, how it is diagnosed and its multidisciplinary clinical management.
Publisher
Elsevier Ltd,Royal College of Physicians,Elsevier
Subject
