Primary ciliary dyskinesia screening

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Hafsa Ghaffar, M.B.B.S[2]

Overview

There is insufficient evidence to recommend routine screening for primary ciliary dyskinesia, however patients with persistent sinusitis, rhinitis, and no known etiology should be screened by nasal nitric oxide test, low levels of nasal nitric oxide is diagnostic of primary ciliary dyskinesia and should prompt further testing with biopsy and ciliary beat pattern(CBP).

Screening

There is insufficient evidence to recommend routine screening for primary ciliary dyskinesia, however patients with persistent sinusitis, rhinitis, and no known etiology should be screened by nasal nitric oxide test, low levels of nasal nitric oxide is diagnostic of primary ciliary dyskinesia and should prompt further testing with biopsy and ciliary beat pattern(CBP).

  • Nasal nitric oxide test is more reliable in children above 5 years old and in adults because of difficult techniques and interpretation.
  • Saccharine test is performed to assess transport in the nose and mucociliary clearance.[1]

References

  1. Schmoldt A, Benthe HF, Haberland G (1975). "Digitoxin metabolism by rat liver microsomes". Biochem Pharmacol. 24 (17): 1639–41. PMID /10.1080/01913120590951220 Check |pmid= value (help).


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