Paper II
2024 December (Supplementary) (2019 Scheme) · 100 marks · 180 min

Question

(A) Hepatocytes show PASD positive cytoplasmic globular inclusions in Alpha -1 -Antitrypsin deficiency. (R) Alpha-1-Antitrypsin deficiency is caused by mutations that lead to misfolding of Alpha -1-Antitrypsin

  • a) Both A & R are correct and R is the reason for A
  • b) Both A & R are correct but R is not reason for A
  • c) A is correct R is incorrect
  • d) A is incorrect R is correct (PTO)
Qxii1 marksMCQs

Answer

Correct answer: a) Both A & R are correct and R is the reason for A

Both statements are correct, and R explains A. In α1-antitrypsin (AAT) deficiency, gene mutations (most commonly the Z allele) cause the AAT protein to misfold; the misfolded protein cannot be secreted from hepatocytes and instead accumulates within the endoplasmic reticulum, forming characteristic round-to-oval, PAS-positive, diastase-resistant (PASD-positive) cytoplasmic globular inclusions — directly explaining the histological finding in A.


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