Alport’s Syndrome

Some kidney diseases such as Alport’s Syndrome are inherited. In 1927, Cecil A. Alport described in the British Medical Journal a family with three generations of progressive hereditary nephritis and deafness. His name has been associated with this syndrome ever since.

The gene for Alport’s Syndrome is located in the X chromosome—the chromosome that determines an individual’s gender. Because females have two X chromosomes, this syndrome is less severe for them. A normal gene on one of the X chromosomes limits the effects of the Alport gene. Since males have only one X chromosome, there is no normal gene to oppose the effects of the Alport’s gene, resulting in a more severe case of this syndrome.

One of the main symptoms of this syndrome is hematuria (blood in the urine). During infancy, boys are more likely to develop hematuria than girls.

People with Alport’s Syndrome also may have hearing loss. This symptom usually is detected in males buy the time they are eight to 10 years old; and may be so severe that hearing aids are required. Hearing loss in females is mild, rarely resulting in the need for hearing aids.

Males also have a tendency to lose large amounts of protein in the urine, resulting in fluid retention and swelling. This is called nephritic syndrome. Over time, males with Alport’s Syndrome develop the typical signs of kidney failure such as high blood pressure, swelling and, in some cases, impaired growth. As Alport’s Syndrome progresses, so does the damage to the kidney. The glomeruli undergo a gradual process of destruction, which leads to kidney failure.

In males with Alport’s Syndrome, kidney failure is inevitable, but kidney failure in females is unusual. The age at which Alport’s Syndrome causes kidney failure varies. It can occur as early as 15 to 20 years of age or it may not occur until the age of 40 or 50.

Diagnosing Alport’s Syndrome involved a detailed study of family history and a kidney biopsy. The biopsy would show—only for those with Alport’s Syndrome—changes in the walls of the capillaries that make up the glomeruli.

Alport’s Syndrome treatment consists of controlling high blood pressure and restricting dietary phosphorus. Some people who develop kidney failure as a result of the disease may require dialysis or kidney transplantation. In most cases, Alport’s Syndrome does not recur in transplanted kidneys.

Families with a history of Alport’s Syndrome may now have some good news about detecting this disease. Recently, a group of researchers at the University of Utah School of Medicine in Salt Lake City were able to isolate the gene responsible for Alport’s Syndrome. This discovery eventually will make it possible to develop a more simple, yet precise test for the disease.

To learn more about Alport’s Syndrome, you may contact the National Kidney Foundation, Preston Library at 865.305.9525 or visit http://gsm.utmck.edu/medlibrary/consumer.htm.

To make an appointment with a physician at UT Medical Center, call a healthcare coordinator toll-free at 1.877.UT.CARES (1.865.882.2737).