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.

(please be specific)

Explanation / Answer

The baby is of Northern European genetic descent and has a persistent deep cough with thick mucus. The infant also has diarrhea with bulky foul-smelling stools. fecal occult blood, stool pathogen culture and parasite examinations are negative. Considering all these findings, the preliminary diagnosis could be cystic fibrosis (CF).

Cystic Fibrosis (CF), autosomal recessive disorder is due to mutation in the gene, cystic fibrosis transmembrane conductance regulator (CFTR). The CFTR protein is a channel protein that controls the flow of H2O and Cl- ions in and out of cells. Mutations in CFTR protein results in building up of thick mucus due to defect in the movement of ion leading to cystic fibrosis.

In CF, the most affected organ is lungs. Pancreas, liver, kidneys, and intestine are also affected. CF causes difficulty in breathing. Mucus build up inside the lungs will lead to frequent infections. It also causes sinus infections, poor growth, fatty stool, clubbing of the fingers and toes, and infertility in males. Diagnosis is done by measuring the amount of chloride in sweat and presence of more than 7g of fat in stools. There is no cure for cystic fibrosis, but treatment can reduce the occurence of symptoms and prevent complications.

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