In this condition, the heart is transposed to the right side of the chest, and the internal abdominal organs may also be transposed. Patients with similar clinical and cilial abnormalities, but without situs inversus, were later recognised and together with patients with Kartagener's syndrome they were classified as having immotile cilia syndrome. Immotile cilia syndrome was renamed PCD when functional studies of cilia from these patients showed them to have abnormal motility rather than being completely immotile. The lungs, nose, middle ear and sinuses are primarily affected as they rely on the co-ordinated, effective beating of cilia to remove secretions. Clinical manifestations of PCD include recurrent lower respiratory tract infections, chronic rhinitis, sinusitis and otitis media.
Infertility occurs in virtually all males.
Ultrastructural defects, such as a deficiency in the number of dynein arms supports the diagnosis, however normal cilial ultrastructure does not exclude it. Management Management of patients with PCD involves daily chest physiotherapy including postural drainage and coughing. These techniques compensate for deficient mucociliary clearance. We recommend the prompt use of oral antibiotics for even trivial respiratory symptoms and intravenous antibiotics for pulmonary exacerbations. Regular review by a physiotherapist, a paediatrician with a respiratory interest, and a specialist in Ear, Nose and Throat diseases is important.