Which is not a pa of Kaageners syndrome: March 2007

Ans. D: Cardiomegaly Primary ciliary dyskinesia/PCD/immotile ciliary syndrome/ Kaagener Syndrome is a rare autosomal recessive genetic disorder which causes a defect in the action of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube. PCD is a genetically heterogenous disorder affecting motile cilia. Around 90% of individuals have ultrastructural defects affecting protein(s) in the outer and/or inner dynein arms which give cilia their motility When accompanied by the combination of situs inversus (reversal of the internal organs), chronic sinusitis, and bronchiectasis, it is known as Kaagener syndrome. The main consequence of impaired ciliary function is reduced or absent mucus clearance from the lungs, and susceptibility to chronic recurrent respiratory infections, including sinusitis, bronchitis, pneumonia, and otitis media. Infeility is common, due to defective ciliary action in the follopian tube in affected females or diminished sperm motility in affected males.