Renal and Urinary: Glomerulonephritis, AKI · USMLE Step 1

A 35-year-old woman presents with hematuria and hearing loss. Her father had a similar condition. Which mutation is most likely?

  1. Type IV collagen gene defect
  2. CFTR chloride channel mutation
  3. β-globin chain gene mutation
  4. p53 tumor suppressor mutation
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Correct answer: Type IV collagen gene defect

Alport syndrome is caused by type IV collagen defects affecting basement membranes in kidney, ear, and eye.

Difficulty: Medium Question 3 of 20

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