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Cystic fibrosis — RACP Paediatrics MCQ

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HardRespiratoryCystic fibrosisRACP Paediatrics

A 14-month-old has chronic loose greasy stools, poor weight gain and recurrent wet cough despite adequate calorie intake. His newborn screening was reported as equivocal after an early repeat sample. Examination shows finger clubbing and nasal polyps. What is the most likely diagnosis?

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Correct answer: B — Cystic fibrosis

Cystic fibrosis is most likely because pancreatic malabsorption, poor growth, chronic wet cough, clubbing and nasal polyps cluster together. Coeliac disease can cause poor growth and diarrhoea but does not explain chronic suppurative respiratory features. Equivocal newborn screening should not reassure when the phenotype is strong.

Reference: Australian newborn bloodspot screening programme; RACP Knowledge Guides