title: Early lung disease in young children with primary ciliary dyskinesia.
abstract: Primary ciliary dyskinesia (PCD) is an autosomal recessive disease in which ciliary dysfunction leads to chronic lung, sinus, and middle ear disease. PCD is often not diagnosed until late childhood due to its presumed rarity and the technical expertise necessary for diagnosis; as such, little is known about lung disease in young children with PCD. We report on 3 young children with PCD who had evidence of lung disease on infant pulmonary function testing, bronchoscopy, and/or computed tomography (CT) of the chest before 3 years of age.
authors.affiliation: Department of Pediatrics, Division of Pulmonology, University of North Carolina, Chapel Hill, North Carolina, USA.
authors.forename: David E
authors.initials: DE
authors.lastname: Brown
authors.forename: Jessica E
authors.initials: JE
authors.lastname: Pittman
authors.forename: Margaret W
authors.initials: MW
authors.lastname: Leigh
authors.forename: Lynn
authors.initials: L
authors.lastname: Fordham
authors.forename: Stephanie D
authors.initials: SD
authors.lastname: Davis
mesh_terms: D001991:Bronchitis / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology; D001999:Bronchoscopy; D002675:Child, Preschool; D002923:Cilia / Q000648:ultrastructure; D005260:Female; D006801:Humans; D007223:Infant; D007619:Kartagener Syndrome / Q000150:complications*; D008168:Lung / Q000000981:diagnostic imaging; D008171:Lung Diseases / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology*; D008297:Male; D008854:Microscopy, Electron; D010033:Otitis Media / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology; D011018:Pneumonia, Pneumococcal / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology; D001261:Pulmonary Atelectasis / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology; D012129:Respiratory Function Tests; D012852:Sinusitis / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology; D014057:Tomography, X-Ray Computed