Alport syndrome is a genetic disease that damages the tiny blood vessels in your kidneys. It can lead to kidney disease and kidney failure and can also cause hearing loss and problems within the eyes. Alport syndrome causes damage to your kidneys by attacking the glomeruli, the tiny filtering units inside your kidneys. Alport syndrome is a rare inherited disease that only affects roughly 30,000-60,000 individuals in the United States, yet it accounts for 3% of children with chronic kidney disease and 0.2% of adults with end-stage renal disease (ESRD). It is caused by genetic mutations that affect the type IV collagen family of proteins. Type IV collagen is a major part of important tissue structures called basement membranes that are present in all tissues in the kidney, inner ear, and eye.
Alport syndrome occurs in approximately 1 in 50,000 newborns.
Alport syndrome is characterized by kidney disease, hearing loss, and eye abnormalities. Symptoms typically begin in childhood, and the first sign of the condition is usually the presence of blood in the urine (hematuria). Other symptoms of kidney disease can include having protein in the urine (proteinuria). Over time, an affected person may experience swelling (edema), bone weakening, and joint pain (osteodystrophy). Without treatment, affected individuals will experience end-stage renal disease.
Alport syndrome also causes sensorineural hearing loss, or hearing loss that is due to the inner ear or the nerves not working properly. Hearing loss typically develops during late childhood or early adolescence, and most affected individuals become deaf by age 40. Alport syndrome is also characterized by specific eye changes. Most commonly, affected individuals have an eye finding called anterior lenticonus, which causes the lens to become cone-shaped. Other affected individuals may have abnormal coloration of the retina (dot-and-fleck retinopathy), which can sometimes lead to vision loss. Some individuals may experience maculopathy, or damage to the part of the eye (macula) that allows for central vision
Alport syndrome occurs in approximately 1 in 50,000 newborns.
Alport syndrome is characterized by kidney disease, hearing loss, and eye abnormalities. Symptoms typically begin in childhood, and the first sign of the condition is usually the presence of blood in the urine (hematuria). Other symptoms of kidney disease can include having protein in the urine (proteinuria). Over time, an affected person may experience swelling (edema), bone weakening, and joint pain (osteodystrophy). Without treatment, affected individuals will experience end-stage renal disease.
Alport syndrome also causes sensorineural hearing loss, or hearing loss that is due to the inner ear or the nerves not working properly. Hearing loss typically develops during late childhood or early adolescence, and most affected individuals become deaf by age 40. Alport syndrome is also characterized by specific eye changes. Most commonly, affected individuals have an eye finding called anterior lenticonus, which causes the lens to become cone-shaped. Other affected individuals may have abnormal coloration of the retina (dot-and-fleck retinopathy), which can sometimes lead to vision loss. Some individuals may experience maculopathy, or damage to the part of the eye (macula) that allows for central vision
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