Update of respiratory tract disease in children with primary ciliary dyskinesia

SD Sagel, SD Davis, P Campisi… - Proceedings of the …, 2011 - atsjournals.org
SD Sagel, SD Davis, P Campisi, SD Dell
Proceedings of the American Thoracic Society, 2011atsjournals.org
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 …
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.
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