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USMLE · Question #567
USMLE Question #567: Real Exam Question with Answer & Explanation
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Question
A 30-year-old woman comes to the physician because of a 2-day history of abdominal pain. She has a history of recurrent upper respiratory tract infections, sinusitis, and pancreatitis. She has thick nasal secretions. She says that her sweat is salty and crystallizes on her skin. Her vital signs are within normal limits. Physical examination shows epigastric tenderness. Genetic testing for the 36 most common mutations shows a detectable mutation (G551D) in one allele of the CFTR gene. Which of the following best explains this patient's clinical phenotype?
Options
- ALoss of heterozygosity of the CFTR gene has occurred in the pancreas
- BOnly one G551D allele is needed in CFTR
- CThe patient is a CFTR obligate carrier
- DThe patient's CFTR mutation is unrelated to her clinical phenotype
- EThe second CFTR mutation was not detected by the testing obtained
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