Question 169 · LEK · Cystic fibrosis
A 4-month-old girl was admitted to the hospital because of low weight gain, after the second episode of rectal prolapse. In the past she presented prolonged jaundice till 5th week of age. Currently, sporadic cough. On physical examination, apart from dystrophy, without significant abnormalities. Until now she has been neither diagnosed, nor hospitalized. In lab. evaluation the concentrations of serum ions were as follows: Na⁺ - 128 mmol/l, Cl⁻ - 88 mmol/l. What is the most probable diagnosis?
- A. galactosemia.
- B. biliary atresia.
- C. cystic fibrosis.
- D. diabetes insipidus.
- E. congenital adrenal hyperplasia.
Hint
Combine rectal prolapse, failure to thrive, prolonged neonatal jaundice and low sodium and chloride — think of a disease with salty sweat.
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