Primary ciliary dyskinesia (PCD)

This article summarizes the current state of the scientific and clinical knowledge that relates to primary ciliary dyskinesia (PCD). Although PCD is a rare disease with a prevalence of 1 in 20,000 it has a well recognized morbidity. It is believed that an accurate diagnosis and the application of appropriate management can significantly reduce this morbidity. The cilia themselves are highly complicated organelles that perform important functions, particularly in the respiratory and reproductive tracts, and they have been the focus of many years of research. Our current knowledge of ciliary function and mucociliary clearance is summarized, and the relationship with laterality defects is discussed. A phenotype resembling PCD is also seen in animal models, and some of these are described before reviewing the clinical aspects of PCD in humans and new developments in the field that may have implications for the future investigation and management of affected individuals.