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General Medicine · Respiratory medicine: alpha-1 antitrypsin deficiency
Sample itemA nonsmoker in their 30s has panacinar emphysema predominantly affecting the lower lobes and abnormal liver enzymes. What inherited disorder is most likely?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
B. Alpha-1 antitrypsin deficiency
Alpha-1 antitrypsin deficiency causes unopposed elastase activity, leading to early panacinar emphysema with lower-lobe predominance and can also cause hepatic injury from misfolded protein accumulation.
Option by option
A. Cystic fibrosis
Cystic fibrosis causes bronchiectasis and pancreatic disease.
B. Alpha-1 antitrypsin deficiency (correct)
Correct. Early basal panacinar emphysema plus liver disease is characteristic.
C. Primary ciliary dyskinesia
Primary ciliary dyskinesia causes recurrent sinopulmonary infection and situs abnormalities.
D. Sarcoidosis
Sarcoidosis causes granulomatous multisystem disease.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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