1. It is characterized by a triad of symptoms: hematuria (Kidney), sensorineural hearing loss (Ear), and ocular abnormalities (Eye).
2. 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.
3. 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 or COL1A2 |
Reference:
1. Robbins & Cotran pathologic basis of disease (South asia edition), Vol. 2, P. No. 701, 924