title: Update of respiratory tract disease in children with primary ciliary dyskinesia.
abstract: Primary ciliary dyskinesia (PCD) is a rare genetic disease characterized by abnormal ciliary structure and function leading to impaired mucociliary clearance and chronic progressive sinopulmonary disease. Upper and lower respiratory tract manifestations are cardinal features of PCD. This review summarizes the current state of knowledge of respiratory tract disease in individuals with PCD and highlights the challenges in identifying and quantifying lung disease in very young children with PCD. No specific therapies are available to correct ciliary dysfunction in PCD. Treatment is not evidence based, and recommendations are largely extrapolated from cystic fibrosis and other conditions with impaired mucociliary clearance. There is a pressing need to develop and validate outcome measures, including patient-reported outcomes, that could be used to evaluate potential therapies in PCD. This review concludes with recommendations for clinical endpoints and outcome measures and a prioritized list of treatments to study in PCD clinical trials.
authors.affiliation: Children's Hospital Colorado, Aurora, CO 80045, USA. sagel.scott@tchden.org
authors.forename: Scott D
authors.initials: SD
authors.lastname: Sagel
authors.forename: Stephanie D
authors.initials: SD
authors.lastname: Davis
authors.forename: Paolo
authors.initials: P
authors.lastname: Campisi
authors.forename: Sharon D
authors.initials: SD
authors.lastname: Dell
mesh_terms: D002648:Child; D002908:Chronic Disease; D019468:Disease Management; D019317:Evidence-Based Medicine; D006801:Humans; D007619:Kartagener Syndrome / Q000150:complications* / Q000175:diagnosis / Q000503:physiopathology / Q000628:therapy; D008171:Lung Diseases / Q000150:complications* / Q000175:diagnosis / Q000503:physiopathology / Q000628:therapy; D009296:Nasal Cavity / Q000737:chemistry; D009569:Nitric Oxide / Q000032:analysis; D010034:Otitis Media with Effusion / Q000150:complications; D010038:Otorhinolaryngologic Diseases / Q000150:complications* / Q000175:diagnosis; D012129:Respiratory Function Tests; D012141:Respiratory Tract Infections / Q000150:complications; D012220:Rhinitis / Q000150:complications; D012852:Sinusitis / Q000150:complications; D014057:Tomography, X-Ray Computed
chemical_list: D009569:Nitric Oxide