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Primary ciliary dyskinesia — RACP Paediatrics MCQ

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HardRespiratoryPrimary ciliary dyskinesiaRACP Paediatrics

A 7-year-old has chronic wet cough from infancy, neonatal respiratory distress, chronic otitis and rhinosinusitis, and dextrocardia. CT demonstrates bronchiectasis. Which investigation most appropriately advances confirmation of the suspected underlying disorder?

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Correct answer: E — Specialist primary-ciliary-dyskinesia testing including nasal nitric oxide

Explanation lettering: B = shown as A · C = shown as B · A = shown as C · E = shown as D · D = shown as E

D is correct. The phenotype strongly suggests primary ciliary dyskinesia; confirmation requires specialist multimodal testing, commonly nasal nitric oxide in an age-appropriate cooperative child followed by ciliary functional/structural or genetic assessment. A assesses asthma. B tests reflux. C infection sampling cannot establish ciliary dysfunction. E cystic fibrosis should be considered, but sweat testing alone cannot confirm or exclude the suspected PCD.

Reference: RCH Melbourne, Cough: https://www.rch.org.au/clinicalguide/guideline_index/Cough/; European Respiratory Society, Guideline for diagnosis of primary ciliary dyskinesia: https://publications.ersnet.org/content/erj/49/1/1601090