A 3-year-old Caucasian boy is brought to the clinic for a chronic productive cough not responding...

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A 3-year-old Caucasian boy is brought to the clinic for achronic productive cough not responding to antibiotics givenrecently. He has no fever or sick contacts. His medical history issignificant for abdominal distention, failure to pass stool, andemesis as an infant. He continues to have bulky,foul-smellingstools. No diarrhea is present. He has several relatives withchronic lung and â€œstomachâ€ problems, and some have even died at ayoung age. The examination reveals an ill appearing, slender malein moderate distress. The lung physical reveals poor air movementin the base of lungs bilateral and coarse rhonchi throughout bothlung fields. A chloride sweat test was performed and was positive,indicating cystic fibrosis (CF). What is the mechanism of thedisease? How might gel electrophoresis assist in making thediagnosis?

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Mutations in CFTR cystic fibrosis transmembrane conductance regulator are the primary cause of cystic fibrosis In CF there is defective CFTR channels formed in the apical membrane of the mucus secreting epithelial cells These epithelial cells excrete sodium chloride ions along with water to dilute the mucus secreted by goblet cells CFTR channel allows export of chloride ions and to a certain extent bicarbonate ions out of the epithelial cells via the transcellular pathway through the epithelial cells Epithelial cell absorb sodium ions through the apical membrane by ENaC channels Basolateral transport of sodium from cells to blood occurs via sodium potassium pump The net transport of chloride also causes the sodium ions to be excreted out via the paracellular pathways along with water into the lumen of the epithelial cells Water moves into lumen via aquaporin channels and paracellular pathway through junction between two epithelial cells Mucus therefore gets diluted and the mucus See Answer

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