Primary Ciliary Dyskinesia (Ciliary Dyskinesia/Immotile Cilia Syndrome)
Primary Ciliary Dyskinesia (PCD) is an inherited disorder characterized by defective cilia, resulting in impairment of ciliary motion.
In the normal lung: Ciliated cells line the epithelium from the bronchioles to the trachea and are covered with a mucus blanket. The cilia beat in a coordinated sweeping fashion, propelling mucus toward the pharynx. This mucociliary escalator serves as the primary defense mechanism for the lung trapping inhaled particles including bacteria, transporting them out of the lung and maintaining a sterile environment.
In PCD the cilia beat in a dyscoordinated fashion resulting in impaired clearance from the lung and pooling of secretions.
Inhaled particles and bacteria are not adequately cleared resulting in irritation of the lung and additional secretion production as the natural defense mechanisms of the lung attempt to clear these invading particles and organisms. This exacerbates the secretion retention problem.
The warm, moist environment in the lung provides a perfect medium for the growth of bacteria and other infectious organisms resulting in pulmonary infection and further mucus production.
PCD is a vicious cycle of inability to clear the secretions, overproduction of mucus, infection, and further mucus production. Recurrent pneumonia is common, often resulting in bronchial wall damage and progressive compromise of lung function.
In addition to placing patients at risk for pulmonary infection, excessive secretions result in mucus plugging and impaired gas exchange.
Complications of PCD can include: hyperinflation, bronchial wall thickening, atelectasis, and often bronchiectasis.
To clear excessive secretions, and minimize the pulmonary complications of the disease, people with PCD require frequent Airway Clearance Therapy.
Sources
Leigh MW. Primary Ciliary Dyskinesia. In: Chernick V, Boat TF, eds. Kendig EL, consulting ed. Kendig’s Disorders of the Respiratory Tract in Children. 6th ed. Philadelphia, PA: W.B. Saunders Company. 1998: 819–825.
Weibel ER, Taylor CR. Functional Design of the Human Lung for Gas Exchange. In: Fishman AP, Elias JA, Fishman JA, Grippi MA, Kaiser LR, Senior RM, eds. Fishman’s Pulmonary Diseases and Disorders. 3rd ed. New York, NY: McGraw Hill Companies, Inc. 1998: 26.
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