Primary ciliary dyskinesia

Semin Respir Crit Care Med. 2003 Dec;24(6):653-62. doi: 10.1055/s-2004-815661.

Abstract

Primary ciliary dyskinesia (PCD) is an inherited disorder characterized by impaired ciliary function that leads to an array of clinical manifestations including chronic bronchitis, chronic sinusitis, chronic otitis media, situs inversus (in approximately 50% of cases), and infertility. The underlying genetic and molecular defects have not been defined. Molecular genetic studies have demonstrated multiple gene loci. In a few families, defects in genes encoding ciliary dynein proteins have been identified. PCD is an interesting disease to compare with cystic fibrosis (CF) because both are airway diseases associated with impaired mucociliary clearance and with chronic infection of the airways leading to bronchiectasis as well as chronic infection of the sinuses that may be associated with nasal polyposis. The progression of the lower airway disease appears less rapid in PCD. Unlike CF, PCD is commonly associated with chronic otitis media, respiratory problems during the neonatal period, and situs inversus, suggesting that ciliary function is also important for clearing fluid/bacteria from the middle ear, for clearing fluid from the fetal lung during the transition to an air-filled neonatal lung, and for directing laterality of organs during embryonic development. The management for PCD lung disease is similar to that for CF and other diseases with chronic bronchitis leading to bronchiectasis.