Kartagener Syndrome (Primary Ciliary Dyskinesia)
Kartagener Syndrome, also known as Primary Ciliary Dyskinesia (PCD), is an autosomal recessive disorder caused by a dynein arm defect affecting the movement of cilia.
Ciliary immotility leads to the classic Kartagener Syndrome triad of findings: chronic sinusitis, bronchiectasis, and situs inversus.
Immotile cilia cause sinusitis and upper respiratory infections (otitis media) by impairing mucociliary clearance. An impaired mucociliary escalator in the bronchioles leads to recurrent infections and scarring, which results in bronchiectasis. Impaired movement of cilia in the fallopian tubes or flagella of sperm (also dependent on dynein) can lead to infertility. Ciliary immotility during development may cause situs invertus (inverted organ positions) and dextrocardia (right-sided heart).
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