부산대학교 도서관

Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder, with considerable heterogenicity, characterized by a spectrum of corresponding defects in ciliary ultrastructure and/or ciliary function related to genetic mutations effecting motile cilia. The impaired ciliary function impedes mucociliary clearance, which predisposes the patient to upper and lower respiratory tract infections, chronic sinopulmonary infection, development of bronchiectasis and loss of lung function.Recurrent ear infections might lead to hearing loss. Many males with primary ciliary dyskinesia have immobile spermatozoa or dysfunction of cilia in the epididymal duct, leading to infertility.During embryogenesis, nodal cilia, which are motile cilia, determine the correct lateralization of the organs. Dysfunction of these cilia leads to random lateralization and thus situs inversus in patients with primary ciliary dyskinesia. Kartagener’s syndrome describes the classic triad of situs inversus, bronchiectasis and chronic sinusitis due to a congenital reduction or absence of ciliary function. The severity of the disease in adults is highly variable. Herein we present 3 members of a family with PCD developing almost the entire spectrum of manifestations and requiring not only extensive pediatric and adult respiratory medicine management but also a specialized multidisciplinary approach. [ABSTRACT FROM AUTHOR]