Alport Syndrome

Inherited kidney disease with progressive hearing loss and eye changes

Overview

Alport syndrome is a genetic disorder of type IV collagen, a protein found in the basement membranes of the kidney, inner ear, and eye. It is caused by variants in the COL4A3, COL4A4, or COL4A5 genes, with the X linked form being most common and typically more severe in males. Kidney disease is the defining feature and can progress to kidney failure. Bilateral sensorineural hearing loss usually develops in late childhood or adolescence, and characteristic changes of the lens and retina may occur. Hearing aids are commonly used to manage the hearing loss.