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ENT · Nose: primary ciliary dyskinesia screening
Sample itemA 9-year-old has daily wet cough, chronic rhinosinusitis, recurrent otitis media with effusion and dextrocardia on chest film. Which screening test is most appropriate before confirmatory ciliary studies?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
C. Nasal nitric oxide measurement, which is characteristically very low
The picture with situs inversus suggests Kartagener syndrome, a form of primary ciliary dyskinesia. Nasal nitric oxide is markedly reduced and is a useful screening test, followed by ciliary beat analysis, electron microscopy or genetics. Cystic fibrosis is a differential and sweat testing is done in addition, not instead.
Option by option
A. Skin prick testing
Allergy testing does not explain situs inversus.
B. Serum IgE level
A high IgE suggests allergic disease, not ciliary dysfunction.
C. Nasal nitric oxide measurement, which is characteristically very low (correct)
Correct. Very low nasal nitric oxide is typical of ciliary dyskinesia.
D. Sweat chloride only, to the exclusion of other tests
Sweat chloride tests for cystic fibrosis and would not exclude ciliary disease.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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