Alport Syndrome 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
- Nephritis with hematuria and proteinuria
- 90% advance to end-stage renal disease by 40yo
- Sensorineural hearing loss
- Retinopathy
