title: [Primary ciliary dyskinesia: who and how to confirm the diagnosis?].
abstract: Primary ciliary dyskinesia (PCD) is a rare genetic disease associated with abnormal ciliary structure and function, which results in retention of mucus and bacteria in the respiratory tract, leading to chronic oto-sino-pulmonary disease from early childhood, situs abnormalities and abnormal sperm motility. The diagnosis of PCD can be difficult and is based on the presence of the characteristic clinical phenotype, evidence of abnormal ciliary function and specific ultrastructural ciliary defects identified by transmission electron microscopy. Because prognosis of the disease is related to the age of diagnosis, we suggest in this article, elements that should early orientate diagnostic evaluation of patients suspected of having PCD.
authors.affiliation: Service de pneumologie pédiatrique et centre de référence des maladies respiratoires rares, hôpital Armand-Trousseau, 26, avenue du Docteur-Arnold-Netter, 75571 Paris cedex 12, France. aline.tamalet@cegetel.net
authors.forename: A
authors.initials: A
authors.lastname: Tamalet
mesh_terms: D006801:Humans; D007231:Infant, Newborn; D007619:Kartagener Syndrome / Q000150:complications / Q000175:diagnosis*