Alport Syndrome

Alport Syndrome is caused by mutations in genes that encode type IV collagen, a protein essential for maintaining the structure of basement membranes in the kidneys, ears, and eyes. These mutations lead to progressive kidney disease characterized by hematuria (blood in the urine), proteinuria (protein in the urine), and eventual kidney failure. The condition follows three inheritance patterns: X-linked dominant (85% of cases, more severe in males), autosomal recessive (10-15% of cases), and autosomal dominant (rare). The severity and progression vary significantly among affected individuals, even within families. Kidney damage progresses through stages, beginning with blood in the urine and advancing to protein loss and declining kidney function. Many patients progress to end-stage renal disease requiring dialysis or transplantation. Hearing loss typically manifests as sensorineural hearing loss and may worsen over time. Eye involvement, including anterior lenticonus and corneal dystrophy, can affect vision quality. Management focuses on slowing kidney disease progression through blood pressure control and medication, alongside monitoring for hearing and vision changes.