Alport Syndrome

Alport Syndrome is a genetic condition that primarily affects the kidneys, causing problems with filtering waste from the blood. It also impacts the ears, leading to hearing loss, and sometimes the eyes, causing vision issues. The disease results from changes in the genes responsible for making a key protein called type IV collagen, which is important for the structure of the kidney's filtering units. People with this condition often develop blood and protein in their urine and may eventually experience kidney failure. Hearing loss usually begins in childhood or adolescence, and eye problems can include changes in the lens or retina. The condition is inherited, meaning it runs in families.

Alport Syndrome is a hereditary disorder characterized by progressive glomerulonephritis due to mutations in the COL4A3, COL4A4, or COL4A5 genes encoding the alpha chains of type IV collagen. This collagen defect leads to abnormalities in the glomerular basement membrane (GBM), causing hematuria, proteinuria, and eventual renal failure. The syndrome is most commonly inherited in an X-linked pattern via mutations in COL4A5, but autosomal recessive and dominant forms also exist. Extrarenal manifestations include sensorineural hearing loss and ocular abnormalities such as anterior lenticonus and retinal flecks. The hallmark pathological finding is a thickened, split, and lamellated GBM on electron microscopy. The clinical significance lies in its progressive nature leading to end-stage renal disease, often requiring dialysis or transplantation.