OBJECTIVE: To review primary ciliary dyskinesia (PCD) and its ultrastructural aspects, to differentiate primary from secondary ciliary defects and to describe the clinical features, screening and diagnostic laboratorial tests, and the clinical management of this disorder. DATA SOURCES: A bibliographical search was obtained from Medline, Lilacs and SciELO databases, from 1980 to 2007. DATA SYNTHESIS: PCD is an autossomic recessive disorder with abnormal structure and/or function of the cilia, leading to reduced mucociliary clearance. The clinical manifestations include upper and lower respiratory tracts, with recurrent ear, sinus and lung infections that may progress to bronchiectasis. Situs inversus and male infertility are other clinical features of this disorder. PCD should be suspected by pediatricians in the following clinical situations: full term neonates with respiratory distress without apparent causes, presence of dextrocardia, infants with chronic cough and/or recurrent upper airways infections in the absence of immunodeficiency and cystic fibrosis, children with atypical asthma and bronchiectasis without a definitive cause. The diagnostic screening tests are the saccharine and nasal nitric oxide tests. Functional and ultrastructural evaluations demand an electronic microscopic analysis and the observation of the frequency and the pattern of the ciliary movement. CONCLUSIONS: Although the prevalence of PCD is low, the difficulties in establishing the diagnosis due to the complex investigations demanded and the unfamiliarity of the disease by physicians lead to underdiagnosis. Early diagnosis and treatment of PCD are essential to reduce the morbidity and to avoid complications.
ciliary motility disorders; Kartagener syndrome; bronchiectasis; infertility
