• V H Dombi and H Walt.
• Forschungsabteilung Gynäkologie, Departement für Frauenheilkunde, Universitätsspital Zürich.
• Swiss Med Wkly. 1996 Mar 16; 126 (11): 421-33.

AbstractPrimary ciliary dyskinesia is the generic term for a heterogeneous group of inherited diseases in which ciliary ultrastructure is defective and as a consequence ciliary motility is disturbed. An international consensus on the diagnostic criteria has not yet been reached. This paper reviews some recent findings which are useful in the diagnosis of the disease and attempts to establish the best diagnostic criteria. The marker symptoms are chronic bronchitis, otitis, and sinusitis since childhood. Additionally, one or more of the following criteria must be present: Kartagener syndrome, a dextrocardia situation, markedly reduced frequency in ciliary motility, or an essential ultrastructure deviation in more than 20% of the square cuts (e.g. reduced number of dynein arms). Biopsy of the ciliated mucosa is usually required for the above criteria and is studied by vital microscopy and transmission electron microscopy. Primary and secondary ciliary dyskinesia can be distinguished by these methods and the rare case of PCD without ultrastructure deficiency ruled out. In special cases a cell culture is recommended for the diagnosis. Practical aspects of the sampling methods and diagnostic pitfalls are reviewed.

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