Disorders of ciliary motility.
Clearance of mucus and other debris from the airways is achieved by 3 main mechanisms: mucociliary activity, coughing, and alveolar clearance. Disorders of ciliary structure or function results in impaired clearance, and result in chronic sinopulmonary disease manifested as chronic sinusitis, otitis media, nasal polyposis, and ultimately bronchiectasis. In addition, situs inversus, dextrocardia, and infertility can be associated with dysfunctional ciliary activity. The term primary ciliary dyskinesia has been proposed for the spectrum of these diseases. The term Kartagener syndrome applies to this syndrome when accompanied by infertility and dextrocardia or situs inversus. The more common types of ciliary dysmotility syndromes are characterized by missing dynein arms, central microtubule pairs, inner sheath, radial spokes, or nexin links. In addition to structural defects within the cilia, disordered ciliary beating and disordered ciliary arrays on epithelial cell surfaces have been described in this syndrome. Treatment includes rigorous lung physiotherapy, prophylactic and organism-specific antibiotics, and immunization against common pulmonary pathogens. Late stages of the disease may require surgical intervention for bronchiectasis or lung transplant for end-stage lung disease.
Cowan
M J
MJ
Department of Critical Care Medicine, National Institutes of Health, Bethesda, Maryland 20892-1662, USA. mc123@nih.gov
Gladwin
M T
MT
Shelhamer
J H
JH
D000328:Adult; D002648:Child; D002923:Cilia / Q000473:pathology / Q000502:physiology* / Q000648:ultrastructure*; D002925:Ciliary Motility Disorders / Q000175:diagnosis / Q000503:physiopathology* / Q000628:therapy; D006801:Humans; D007619:Kartagener Syndrome / Q000503:physiopathology; D008168:Lung / Q000473:pathology / Q000503:physiopathology