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Cystic fibrosis — DCH MCQ

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HardChronic conditionsCystic fibrosisDCH

A 3-year-old has recurrent chest infections, chronic loose stools and poor growth. Newborn screening was declined, and examination shows finger clubbing. What is the most appropriate investigation?

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Correct answer: D — Sweat chloride test

Recurrent respiratory infection, steatorrhoea-like stools, poor growth and clubbing suggest cystic fibrosis; sweat chloride testing is the diagnostic investigation. A throat swab may identify organisms but would not diagnose the underlying disorder. The pearl is that cystic fibrosis can present despite absence of newborn screening results.

Reference: NICE NG78