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Semin Respir Crit Care Med 2003; 24(6): 653-662
DOI: 10.1055/s-2004-815661
Copyright © 2003 by Thieme Medical Publishers, Inc., 333 Seventh Avenue, New York, NY 10001, USA. Tel.: +1(212) 584-4662

Primary Ciliary Dyskinesia

Margaret W. Leigh
  • Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina
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Publikationsverlauf

Publikationsdatum:
15. Januar 2004 (online)

    Lizenzen und Reprints

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 ~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.

KEYWORDS

Primary ciliary dyskinesia - cilia - dynein - mucociliary clearance

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