Primary Ciliary Dyskinesia: Recent Updates in Its Prevalence and Diagnosis

Abstract

Primary ciliary dyskinesia (PCD) is a genetic disorder characterized by dysfunction of motile cilia throughout the body. Within the upper and lower airways, this ciliary dysfunction results in impaired mucociliary clearance. Leading to chronic, progressive respiratory disease culminating in bronchiectasis. PCD remains underdiagnosed, in part due to clinical heterogeneity and challenges in diagnostic testing. Advances in molecular genetics and ciliary function assessment have substantially reshaped understanding of PCD prevalence, phenotype, and diagnostic strategy. Recent evidence suggests PCD is far more prevalent than previously thought. New findings in have resulted in a joint American Thoracic Society/European Respiratory Society international guideline for diagnosis of PCD. This review aims to synthesize emerging data to provide a primer on PCD, as well as summarize newer diagnostic approaches. This work was presented in part at the 41st Phil Kittredge Memorial Lecture at the 2025 AARC International Congress entitled “Advancement in Personalized Respiratory Care.”