Primary ciliary dyskinesia

Abstract

Mucociliary clearance is an important part of airway host defense. Abnormalities in this system may result in disease, for example, cystic fibrosis and primary ciliary dyskinesia (PCD). PCD reflects genetic-based abnormalities of airway ciliary structure, resulting in disease predominantly in the sinuses, middle ear, and lung. Although the biology of PCD has been known for decades, it is only recently that the genetics of the disease have begun to be elucidated. This chapter primarily focuses on the molecular basis of PCD, with a brief review of biology of ciliary structure/function, and the clinical aspects of the disease. © 2006 Humana Press Inc.