Diagnostic Evaluation of Mucociliary Transport: From Symptoms to Coordinated Ciliary Activity after Ciliogenesis in Culture

Mucociliary transport is one of the most important local defense mechanisms of the airways, but it is prone to many and frequent acquired abnormalities and to inherited abnormalities. These abnormalities result in basic physiologic disturbances leading to a number of respiratory symptoms and signs. In order to critically evaluate the diagnostic value of parameters of this mucociliary cascade, the results of ciliary investigations in over 500 individuals (controls, acquired, and inherited abnormalities) were reviewed. Ciliary beat frequency, ciliary coordination and ultrastructural abnormalities were measured and evaluated in biopsies and after ciliogenesis in culture. There is a considerable overlap for all investigated parameters in biopsy material of controls, secondary, and primary ciliary dyskinesia. There is not one parameter that is diagnostic for primary ciliary dyskinesia or can be used as an exclusion criterion. After ciliogenesis in culture, cilia are always completely normal except for the inherited abnormalities. Absence of coordinated ciliary activity after ciliogenesis in culture is 100% sensitive and specific for the diagnosis of primary ciliary dyskinesia.