A child has recurrent chest infections, steatorrhoea and poor weight gain. Which result confirms the likely diagnosis?

Answer and explanation

Correct answer: A. A sweat chloride level above 60 mmol/L

  1. Step 1: Pulmonary infections with pancreatic insufficiency suggest cystic fibrosis, an autosomal recessive condition. Step 2. A sweat chloride above 60 mmol/L on repeated tests is diagnostic, with genetic testing for CFTR mutations. Answer: A sweat chloride level above 60 mmol/L. Why not the others: Raised IgE points to allergy or aspergillosis. Low immunoglobulins are found in immune deficiency. A positive tTG suggests coeliac disease, which does not cause recurrent chest infections.

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