Alport Syndrome Flashcards Preview

SB_Genetics (Pediatrics Royal College 2018) > Alport Syndrome > Flashcards

Flashcards in Alport Syndrome Deck (3)
Loading flashcards...
1
Q

What is the inheritance of Alport?

A

X linked

2
Q

What is the defect for Alport?

A

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

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