Best of five
- A. Skin-prick testing alone
- B. Sweat chloride as the sole test
- C. Specialist assessment combining nasal nitric oxide with ciliary functional, ultrastructural and genetic testing
- D. Routine sinus culture alone
- E. CT sinuses alone
FRCS (ORL-HNS) · SECTION 1 SBA
Primary ciliary dyskinesia
An adult has lifelong wet cough, chronic pansinusitis, bronchiectasis, otitis media and situs inversus. Which test combination best establishes the suspected diagnosis?
C. Specialist assessment combining nasal nitric oxide with ciliary functional, ultrastructural and genetic testing
Primary ciliary dyskinesia has heterogeneous defects, so no single screening test is definitive. Phenotype-directed assessment uses nasal nitric oxide and confirmatory microscopy, high-speed video or genetics.
Why every option is right or wrong
A. Skin-prick testing alone: Atopy cannot explain situs inversus and lifelong bronchiectasis.
B. Sweat chloride as the sole test: Cystic fibrosis is a differential, but this cannot diagnose ciliary dyskinesia.
C. Specialist assessment combining nasal nitric oxide with ciliary functional, ultrastructural and genetic testing: Primary ciliary dyskinesia has heterogeneous defects, so no single screening test is definitive. Phenotype-directed assessment uses nasal nitric oxide and confirmatory microscopy, high-speed video or genetics.
D. Routine sinus culture alone: Culture identifies secondary infection, not the inherited mechanism.
E. CT sinuses alone: Imaging shows consequences but not ciliary dysfunction.
What if the scenario changed?
If pancreatic insufficiency and very high sweat chloride were present, cystic fibrosis would become more likely.
Independent Clinora educational preparation material; not official JCIE content, an accredited programme, clinical advice, or a substitute for current guidance, local policy and specialist judgement.
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