抄録
Primary ciliary dyskinesia (PCD) is a hereditary disorder with structural and functional impairment of the cilia of the whole body. PCD is characterized by chronic sinusitis, bronchiectasis, male infertility, and ectopic pregnancy due to impaired ciliary motility. The prevalence of PCD is estimated at 1 in 20,000 live births. Cases with situs inversus are termed “Kartagener’s syndrome” and usually these diagnoses are not difficult to make. However, in cases without situs inversus, the diagnosis can be very difficult. As such, it is most likely that PCD without situs inversus is underdiagnosed at the present time. It is reported that the majority of the patients had seen physicians more than 50 times before the diagnosis was made at an average age of 10.9 years. Although the pathogenesis of the disease is well understood, data regarding the otological features of this disease are limited. In order to elucidate the otological features of PCD, we analyzed the clinical features of middle ear diseases in five patients with PCD seen during the past five years. The ages ranged from 8 to 34 years. Basically, they all had otitis media with varying degrees of severity of effusion. The middle ear diseases were intractable in children and were mild but persistent in adults. The eardrums of the adult patients showed a slight degree of retraction. The average hearing level of better hearing ears was 21.3 dB, which suggests that the hearing loss is not severe in PCD. The awareness of this disease should be raised among ENT physicians. Knowledge of these otological features may lead to the early detection of the disease.
