Lack of kinocilia in the nasal mucosa in the immotile-cilia syndrome

This report describes the ultrastructural alterations observed in the nasal mucosa from two female siblings, aged 11 and 14 years, who had chronic bronchitis, bronchiectasis, recurrent pneumonia and unexplained history of sinusitis and recurrent otitis media since early infancy. Both patients showed, instead of normal ciliated cells, abnormal cells showing on their free surface cilium-like projections without an internal axonemal structure. These abnormal cells, lacking basal bodies, centrioles and kinocilia, presented the same pattern of subcellular components as that occurring in the normal ciliated cells. The possibility that these cells represent a result of genetic mutation is discussed.