Primary ciliary dyskinesia
Summary of Primary ciliary dyskinesia
Primary ciliary dyskinesia, also known as Kartagener syndrome, is a rare, ciliopathic, autosomal recessive genetic disorder that causes defects in the action of cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube, as well as in the flagella of sperm cells. The defect occurs as a mutation in dynein, a cilliary motor protein, and clinically manifests with bronchiectasis, recurrent sinusitis, infertility, and dextrocardia.