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Deafness, Ocular Abnormalities, And Nephritic Syndrome Diagnosis

2.4K views 27 replies 13 participants last post by  alfjof  
#1 ·
A clinical study is performed on young male with deafness, lens dislocation, cataract, and nephritic syndrome. Kidney biopsy of these subjects reveal no pathology under immunofluorescence or light microscopy. Which of the following should be a defect in this patient?


A) Mutation in the gene for α1-chain of collagen type IV
B) Mutation in the gene for α2-chain of collagen type IV
C) Mutation in the gene for α3-chain of collagen type IV
D) Mutation in the gene for α4-chain of collagen type IV
E) Mutation in the gene for α5-chain of collagen type IV





:rolleyes::rolleyes::rolleyes:
 
#4 · (Edited)
correct answer is E
hereditary glomerular disease-
alport's syndrome,autosomal dominant disease,x-linked recessive,autoantibodies to tipe IV collagen in GBM
no specific immunofluorescence or electron microscopic findings
sensorineural hearing loss and ocular abnormalitis
defective GBM synthesis due to mutations in a5 chain of collagen IV,associated form with diffuse leiomyomatosis has additional mutation in a6 chain
golgan rr 88, 404 pg
http://www.pathologyexpert.com/boards/onlinefiles/syndromes.htm
FA(2012)-84, 516 pg
 
#14 ·
A) Mutation in the gene for α1-chain of collagen type IV
B) Mutation in the gene for α2-chain of collagen type IV
C) Mutation in the gene for α3-chain of collagen type IV: Goodpasture's syndrome
D) Mutation in the gene for α4-chain of collagen type IV
E) Mutation in the gene for α5-chain of collagen type IV: Alport's syndrome: X-linked & Mutation genetic for α5-chain of collagen type IV(correct answer)
 
#26 ·
Though these wouldn't be the type of Qs in actual exam(I pray they won't be :sorry:)

few af them help to know new things, refresh knowledge build connections and how worst could be the Qs.. He says few are from USMLE Rx so they are not made up either.. He at least cares to share ..

I just go through them take whatever I can and if they are way over my head I would be like whatever :cool: