Scenario 7 | Cystic Fibrosis Complications A 32-year-old wom…
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Scenаriо 7 | Cystic Fibrоsis Cоmplicаtions A 32-yeаr-old woman with cystic fibrosis presents with chronic cough, thick mucus production, and recurrent lung infections. The patient also has difficulty gaining weight despite adequate caloric intake because thick mucus is blocking the pancreatic duct. Her stool is bulky and foul-smelling, consistent with fat malabsorption. Pulmonary function tests show decreased airflow, and oxygen saturation is mildly reduced. Genetic testing shows that she has the F508del mutation, a 3-base pair deletion in the gene for a transmembrane chloride channel. This deletion removes a phenylalanine amino acid at position 508 in the protein and causes the protein to misfold, so it cannot be inserted into the cell membrane.