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Pediatr Allergy Immunol Pulmonol. 2011 Dec;24(4):191-196.

Primary Ciliary Dyskinesia in Children: A Review for Pediatricians, Allergists, and Pediatric Pulmonologists.

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  • 1Department of Pediatrics, Children's Hospital Colorado, University of Colorado School of Medicine , Aurora, Colorado.


Primary ciliary dyskinesia (PCD) is a rare genetic condition that causes impaired mucociliary clearance due to poorly functioning cilia. PCD is one disease manifestation of the many recently recognized associations with ciliary malfunction, referred to as "ciliopathies." Manifestations of PCD commonly begin in the neonatal period with cough, pneumonia, and chronic ear infections or effusions. Approximately half of the affected individuals have situs inversus totalis. The diagnosis is often made in later childhood or early adulthood, because symptoms mimic more common childhood illnesses and because the definitive diagnosis of PCD can be challenging. Treatment recommendations are largely based on therapies used for other conditions with impaired mucociliary clearance in the absence of evidence-based research specific for PCD. Early recognition and initiation of both otolaryngologic and pulmonary management might reduce potential long-term morbidities. The purpose of this article is to update primary care providers, allergists, and pediatric pulmonologists on recent advances in this interesting condition.

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