Alport Syndrome
Alport Syndrome is a genetic disorder that primarily affects the kidneys, leading to progressive loss of kidney function. The disease also often causes hearing loss and eye abnormalities. It is caused by mutations in genes responsible for producing a protein called type IV collagen, which is important for maintaining the structure and function of the kidneys, inner ear, and eyes.
Most commonly, Alport Syndrome is inherited in an X-linked pattern (since the causal gene is on the X-chromosome), which means it often affects males more severely than females. Symptoms usually appear in early childhood and may include blood in the urine, swelling in the legs and feet, and high blood pressure. Although there is no cure for Alport Syndrome, treatments often aim to slow the progression of kidney damage and manage symptoms.
My goal with this page is to provide a list of helpful resources and information for individuals and families affected by Alport Syndrome.
Coming soon…