• It is characterized by a triad of symptoms: hematuria (Kidney), sensorineural hearing loss (Ear), and ocular abnormalities (Eye).
• Most commonly caused by mutations in the COL4A5 gene, which encodes type IV collagen alpha-5 chain. This gene is located on the X chromosome.
• Histology - “basket weave" appearance (splitting and lamination of lamination densaj of the basement membrane.
|
Feature |
Collagen |
Gene |
|
Alport syndrome |
Type IV collagen (Alpha-5 chain) |
COLA4A5 |
|
Goodpasture syndrome |
Type IV collagen (Alpha-3 chain) |
- |
|
Osteogenesis imperfecta (Brittle bone disease) |
Type I collagen |
COL1A1 |