Primary ciliary dyskinesia historical perspective

In 1981, Rossman and coworkers came up with the term primary ciliary dyskinesia (PCD) because some patients with Kartagener syndrome had cilia that were not immotile but exhibited an uncoordinated and inefficient movement pattern.

In 1981, Rossman and coworkers came up with the term primary ciliary dyskinesia (PCD) because some patients with Kartagener syndrome had cilia that were not immotile but exhibited an uncoordinated and inefficient movement pattern. According to recent nomenclature, all congenital ciliary dyskinesias are classified as primary to differentiate it from acquired ciliary dyskinesia. Studies suggest that PCD is still underdiagnosed and that factors contributing to this may include lack of identification of the clinical presentation, lack of diagnostic centers, and patients that have a normal ultrastructure of cilia on transmission electron microscopy. PCD patients were initially explained by KARTAGENER and STUCKI who noted the familial occurrence of chronic sinusitis, situs inversus and bronchiectasis. In 1976, later AFZELIUS noted the relationship between chronic respiratory problems, male sterility, situs inversus, immotile cilia, and abnormal ciliary ultrastructure. It was discovered afterward that the same clinical phenotype was also seen in patients whose cilia were motile but dyskinetic and the name of the condition changed from “immotile cilia syndrome” to “primary ciliary dyskinesia”.^[1][2]

Template:WH Template:WS