Alport Syndrome Flashcards

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1
Q

What is the inheritance of Alport?

A

X linked

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2
Q

What is the defect for Alport?

A

Defect in basement membrane of kidney glomerulus, 85% are caused by mutation in COL4A5 gene

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3
Q

What are the clinical characteristics of Alport Syndrome?

A
  1. Nephritis with hematuria and proteinuria
  2. 90% advance to end-stage renal disease by 40yo
  3. Sensorineural hearing loss
  4. Retinopathy
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