Pediatria pre prax 1/2011

Primary ciliary dyskinesia (immotile–cilia syndrome, Kartegener’s syndrome)

Primary ciliary dyskinesia (PCD) is an autosomal recessive disease characterized by abnormal ciliary motion and impaired mucociliary clearance. Ultrastructural and functional defects of cilia result in the lack of effective ciliary motility, causing abnormal mucociliary clearance. This leads to recurrent or persistent respiratory infections, sinusitis, otitis media, and male infertility. In 50 % of the cases, PCD is associated with situs inversus. They are classified as Kartegener´s syndrome. Heterotaxia (also called „situs ambiguous“) is present in at least 6 % of individuals with PCD with structural inner organs changes or abnormal organs location.

Keywords: ciliary dyskinesia, ultrastructure of cilia, recurrent and chronic respiratory infektions, clinical manifestations, diagnosis, treatment.