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.
This information has been designed as a comprehensive and quick reference
guide written by our health care reviewers. The health information written
by our authors is intended to be a supplement to the care provided by your
physician. It is not intended nor implied to be a substitute for
professional medical advice.
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