Primary ciliary dyskinesia (PCD), also known as immotile ciliary syndrome, is a rare autosomal recessive genetic disorder caused by a defect in the action of cilia lining the respiratory tract. Specifically, it is a defect in dynein protein arms within the ciliary structure. When accompanied by the triad of situs inversus, chronic sinusitis, and bronchiectasis, it is known as Kartagener syndrome. more...
The dysfunction of the cilia begins during the embryologic phase of development. Since the cilia aid in the movement of growth factors resulting in the normal rotation of the internal organs during early embryological development, 50% of these individuals will develop situs inversus or dextrocardia.
The result is impaired ciliary function, reduced or absent mucus clearance, and susceptibility to chronic, recurrent respiratory infections, including sinusitis, bronchitis, pneumonia, and otitis media. The disease typically affects children up to 18 years of age, but the defect associated with it has a variable clinical impact on disease progression in adults as well. Many patients experience hearing loss, and infertility is common. Clinical progression of the disease is variable with lung transplantation required in severe cases. For most patients, aggressive measures to enhance clearance of mucus, prevent respiratory infections, and treat bacterial superinfections are recommended. Although the true incidence of the disease is unknown, it is estimated to be 1 in 32,000 or higher.
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