Alport’s Syndrome

What is it?
Alport’s syndrome is a hereditary disease that affects kidney function and can also cause hearing and vision disorders.
Who gets it?
Alport’s syndrome is primarily seen in men. While this syndrome can cause some symptoms in childhood, first symptoms usually occur in men in their twenties and thirties.
What causes it?
Alport’s syndrome is caused by a defective gene carried on the X chromosome. Women have two X chromosomes, so those who carry the defective gene usually have milder symptoms than men because their second normal X chromosome can serve as backup for the abnormal one. Women, however, can pass the defective gene on to their sons. Men have one X and one Y chromosome, so a defective gene on the X chromosome will cause symptoms. In some cases, however, Alport’s syndrome occurs spontaneously, with no family history of the disease. This is called a spontaneous genetic mutation.
What are the symptoms?
One of the first symptoms of Alport’s syndrome is usually hematuria, or blood in the urine. Tests also may reveal high levels of protein and white blood cells in the urine and waste products such as urea in the blood (called uremia). Eventually, the kidneys are unable to perform the function they should -- to filter waste products from the blood and rid them from the body. Other symptoms may include hearing loss, particularly sounds at high frequencies; vision problems, such as cataracts, involuntary eye movements, and abnormalities of the cornea; nerve problems, such as polyneuropathy; skin problems; and low blood platelet counts that can compromise blood clotting. Although it is unusual, some patients develop nephrotic syndrome, which can cause high protein levels in the urine, low levels of a protein called albumin in the blood, and swelling, usually in the legs and/or abdomen. While women can live with Alport’s syndrome and have no noticeable symptoms other than a slight hearing loss or occasional blood in the urine, men are more likely to die from complications of this disease by middle age.
How is it diagnosed?
To diagnose Alport’s syndrome, your doctor will take a complete medical history and perform a thorough physical exam. He or she will order a urinalysis, a test in which a sample of the urine is studied for signs of blood or proteins, blood tests to check for low platelet counts, and a kidney biopsy. A kidney biopsy is a procedure in which a small sample of kidney tissue is removed with a long, thin needle and examined under a microscope for abnormalities. The biopsy is performed under a local anesthetic so the patient is awake but feels no pain. Genetic tests also are available that can determine whether a person has the defective Alport’s gene.
What is the treatment?
There is no cure for Alport’s syndrome, but treatment is available to ensure the kidneys can function as fully as possible. This includes limiting your intake of salts and fluids, high amounts of which put too much strain on the kidneys. Your doctor will also recommend that you take steps to control your blood pressure and potassium levels. If you have nephrotic syndrome, your doctor will recommend lowering your fluid intake; taking medications called diuretics, which help the kidneys eliminate wastes from the body by increasing urinatation; and eliminating all salts from your diet. You may also need to receive a transfusion of albumin. In cases where the kidneys begin to fail completely, you will need to undergo kidney dialysis or a kidney transplant.
Self-care tips
Because Alport’s syndrome has a genetic link, you may want to seek genetic counseling if you are planning to have children and there is a family history of the disease.