原発性線毛運動不全症（PCD）における耳鼻咽喉科医の役割

抄録

Primary ciliary dyskinesia (PCD) is a rare, autosomal recessive disease with abnormalities of the ciliary structure and function, which causes impaired mucociliary clearance. Patients with PCD present with rhinitis, sinusitis, otitis media with effusion, recurrent lower respiratory tract infections, and/or bronchiectasis. Approximately half of PCD patients have situs inversus totalis, called Kartagener’s syndrome. The absence of clinical or laboratory signs makes PCD difficult to be diagnosed. However, it is important to recognize this disease in order to make the correct diagnosis so as to start appropriate therapy for the respiratory tract infections and to minimise lung damage. Early diagnosis and effective treatment result in prevention of PCD progression. The diagnosis of PCD has relied on analysis of ciliary ultrastructure anomalies with electron microscopy. However, taking biopsy specimens from the conchal mucosa or bronchus mucosa is not easy for general doctors. Therefore, the diagnosis of PCD is often delayed or missed or made incorrectly. In two of the three patients with PCD presented herein, we obtained biopsy specimens from the inferior turbinate mucosa under local anesthesia. Consequently, the patients were diagnosed as having PCD. Another patient who had been diagnosed as having Kartagener’s syndrome had pneumonia, and we performed a tracheostomy. In this article, we emphasize the role of the otolaryngologist in the diagnosis and treatment of PCD.