Kartagener Syndrome, also known as Primary Ciliary Dyskinesia (PCD), is an autosomal recessive disorder that is characterized by a dynein arm defect. This causes the body's cilia to become immotile, which then leads to a number of subsequent clinical findings. Most saliently, Kartagener syndrome patients may be characterized by situs invertus and dextrocardia, a finding in which the laterality internal organs is the mirror image of normal. The immotile cilia also affect a number of other organs that rely on ciliary clearance. For example, impaired ciliary clearance in the bronchioles leads to recurrent infections and subsequent bronchiectasis. When the sinuses are involved, the impaired clearance may lead to recurrent sinusitis. Moreover, impaired clearance in the fallopian tubes or sperm flagella can lead to infertility. Finally, impaired clearance in the ears can lead to recurrent otitis media and subsequent conductive hearing loss.
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17 янв 2019
