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Question 1
A 45-year-old male presents with fatigue, joint pain,
and bronze-colored skin. Laboratory studies reveal
elevated serum ferritin and transferrin saturation. A
liver biopsy shows iron deposition in hepatocytes.
Which of the following genetic mutations is most
likely present in this patient?
,A. HFE gene mutation
B. ATP7B gene mutation
C. CFTR gene mutation
D. α-globin gene deletion
E. β-globin gene point mutation
Answer: A
*Rationale: Hereditary hemochromatosis is an
autosomal recessive disorder most commonly
caused by mutations in the HFE gene, leading to
increased intestinal iron absorption and deposition
in organs (liver, pancreas, heart, skin). ATP7B is
mutated in Wilson disease (copper accumulation).
CFTR is cystic fibrosis. α/β globin mutations cause
thalassemias. *
Question 2
A 32-year-old woman with a history of systemic
lupus erythematosus (SLE) is started on a
medication. She develops a lupus-like syndrome
,with anti-histone antibodies. Which of the following
drugs is most likely responsible?
A. Procainamide
B. Penicillamine
C. Isoniazid
D. Hydralazine
E. Methyldopa
Answer: A
*Rationale: Procainamide is a class IA
antiarrhythmic classically associated with drug-
induced lupus (DIL). DIL is characterized by anti-
histone antibodies, with renal and CNS
involvement being rare. Hydralazine and isoniazid
are also causes, but procainamide is the most
common. Penicillamine causes a myasthenia
gravis-like syndrome. Methyldopa causes
hemolytic anemia. *
, Question 3
A 27-year-old male presents with acute onset of
severe right flank pain radiating to the groin.
Urinalysis shows hematuria. A non-contrast CT
reveals a radiopaque stone in the right ureter. The
stone is composed primarily of calcium oxalate.
Which of the following dietary recommendations is
most appropriate for long-term prevention?
A. Decrease dietary oxalate
B. Increase dietary calcium
C. Decrease dietary purines
D. Increase dietary phosphate
E. Decrease dietary vitamin C
Answer: B
*Rationale: Paradoxically, increasing dietary
calcium binds oxalate in the gut, preventing its
absorption and subsequent renal excretion,
thereby reducing calcium oxalate stone formation.
Decreasing oxalate is also helpful, but increasing
calcium is the key counterintuitive