Alport Syndrome

Alport syndrome is a genetic disease which is characterized by glomerulonephritis, hearing impairment or loss, and loss of vision. Sometimes there is presence of blood in the urine (hematuria). Alport syndrome is triggered by genetic mutations that affect the type IV collagen family of proteins, which is a major part of important tissue structures called basement membranes that are present in all tissues that include the kidney, inner ear, and eye. At least 1 in 5,000 people suffers from Alport syndrome in the United States, affecting boys more than girls, since 80% of the time the disease is passed on by a mutation on the X chromosome.

Alport Syndrome always affects the kidneys. The primary symptom is blood in the urine (hematuria), which is usually microscopic, meaning it can only be detected with a microscope or a urine dipstick. Alport Syndrome causes damage to the kidneys by the progressive formation of scar tissue in the normal kidney structures (glomeruli and tubules). As the kidneys filter proteins out of the blood, these molecules damage the filtering system or glomeruli because of the abnormal collagen makeup. This process is known as fibrosis and it eventually leads to kidney failure.

Alport syndrome was first identified in a British family by Dr. Cecil A. Alport in 1927.