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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.

Primary ciliary dyskinesia


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High Yield Notes
7 pages

Primary ciliary dyskinesia

14 flashcards

USMLE® Step 1 style questions USMLE

5 questions

USMLE® Step 2 style questions USMLE

2 questions

A 35-year-old man comes to his primary care provider's office because of a chronic sinus infection for the past month. He has been treated 3 times already within the past year for a sinus infection. He also reports shortness of breath and hemoptysis. He has smoked 1 pack of cigarettes a day for the past 5 years. A chest x-ray shows the following image:

Which of the following is the most likely diagnosis? 

External References