Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. People with Alport syndrome experience progressive loss of kidney function.
Causes
Alport Syndrome is an inherited disease of the kidney. 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 including the kidney, inner ear, and eye.
Types of Alport Syndrome
There are three genetic types:
- X-linked Alport Syndrome (XLAS) is the most common; in these families affected males typically have more severe disease than affected females.
- In autosomal recessive Alport Syndrome (ARAS) the severity of disease in affected males and females is similar.
- There is also an autosomal dominant form (ADAS) which affects males and females with equal severity.
Signs and symptoms
With all types of Alport syndrome the kidneys are affected. The tiny blood vessels in the glomeruli of the kidneys are damaged and cannot filter the wastes and extra fluid in your body. Many people with Alport syndrome also have hearing problems and abnormalities with their eyes.
Other signs and symptoms may include:
- Blood in the urine (hematuria), the most common and earliest sign of Alport syndrome
- Protein in the urine (proteinuria)
- High blood pressure (hypertension)
- Swelling in the legs, ankle, feet and around the eyes (called edema)
These signs and symptoms may differ, based on age, gender and inherited type of Alport syndrome. For example, hearing and vision problems tend to be more common in males than females and high blood pressure is usually found later in life.