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Anatomy · Histology: basement membrane collagen
Sample itemA 9-year-old boy has recurrent haematuria, high-tone sensorineural hearing loss and anterior lenticonus. His maternal uncle died of renal failure. Electron microscopy of his glomerulus shows a split and lamellated basement membrane. Which structural protein is defective?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
A. Type IV collagen
This is Alport syndrome, usually X-linked, caused by mutations in the alpha-5 chain of type IV collagen. Type IV collagen forms the sheet-like network of the basement membrane of the glomerulus, cochlea and lens capsule, which explains the kidney, ear and eye findings.
Option by option
A. Type IV collagen (correct)
Correct. Type IV collagen is the main collagen of basement membranes in the glomerulus, cochlea and lens.
B. Type III collagen
Type III collagen forms reticular fibres and is defective in vascular Ehlers-Danlos syndrome.
C. Type I collagen
Type I collagen is the main collagen of bone, tendon and skin and is defective in osteogenesis imperfecta.
D. Type II collagen
Type II collagen forms hyaline cartilage and vitreous and is affected in some chondrodysplasias.
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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