Alternative Names & Classifications:
Hereditary Nephritis (CLINICAL)
Description
Alport syndrome is caused by mutations in the COL4A3, COL4A4, or COL4A5 genes, which instruct the body to produce type IV collagen. This specific collagen is a critical structural component of the basement membranes in the kidneys, inner ears, and eyes. The defective collagen leads to progressive scarring of the kidney filters (glomeruli), ultimately causing end-stage renal failure.