6 . Christine, a woman of Northern European genetic descent, brings her 6-month-

Question

6. Christine, a woman of Northern European genetic descent, brings her 6-month-old infant to the pediatrician. The baby has a persistent deep cough with thick mucus, and the problem is only temporarily improved by antibiotic treatment. The cough started with a runny nose 2 months ago, but it has persisted and the infant has not gained weight over the interim. The infant has diarrhea with bulky, foul-smelling, oily-looking stools. On the basis of the following test results, what is a preliminary diagnosis? Explain your answer in detail! Fecal occult blood, stool pathogen culture, and parasite examinations are negative.

Fecal fat test: 7 g/24 h (normal: less than 7 g/24 h)

Chest x-ray: bronchial wall thickening

A Sweat chloride test is scheduled.

Explanation / Answer

On the basis of the data given, the child is suffering from Cystic Fibrosis disease. It is a genetic disease where excess mucous is secreted from the mucus membranes.

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