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Question

In this disease, there occurs a failure of chloride ion transport mechanism on the cell surface membrane of epithelial cells; sweat of the patient contains very high levels of Na+ and Cl- ions. The disease is ______________.

A
thalassemia
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B
cystic fibrosis
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C
phenylketonuria
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D
haemophilia
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Solution

The correct option is B cystic fibrosis
Cystic fibrosis (CF) is an autosomal linked recessive disorder of infants, children and young adults. The disease gets its name from the fibrous cysts that appear in the pancreas. It produces a defective glycoprotein. The defective glycoprotein causes formation of thick mucus in skin, lungs, pancreas, liver and other secretory organs. Sweat of the patient contains very high levels of Na+ and Cl- ions. There is failure of chloride ion transport mechanism on the cell surface membrane of the epithelial cells. Accumulation of thick mucus in lungs results in obstruction of airways. There is recurrent pulmonary infection, mucus deposition in pancreas, maldigestion of food with high fat content in stools. Liver may undergo cirrhosis.

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