Alport syndrome is a genetic disease. This means that people with Alport syndrome are born with it. It is caused by problems with three genes that control the way certain parts of your body are shaped. When there are problems with these genes, parts of your kidneys, ears and eyes do not grow correctly. Alport syndrome always causes kidney disease, and can cause hearing loss and eye problems.

The first sign of Alport syndrome is usually blood in the urine . You usually will not notice the blood in your urine, because it can only be seen using a microscope. Over time, when the kidney damage gets worse, you might notice protein in your urine and high blood pressure. These are all signs of chronic kidney disease. Chronic kidney disease can lead to kidney failure. Kidney failure happens more often in men with Alport syndrome than in women with Alport syndrome.

If your doctor thinks you or your child might have Alport syndrome, the following tests might be done to make a diagnosis:

  • Urine tests
  • Blood tests 
  • Urine tests on relatives
  • Hearing and vision tests
  • Kidney ultrasound
  • Kidney biopsy
  • Skin biopsy
  • Genetic tests

There is no cure for Alport syndrome, but there are treatments that can help protect your kidneys. Blood pressure medicines called angiotensin converting enzyme (ACE) inhibitors and angiotensin receptor blockers (ARBs) can help keep your kidneys working longer. If your kidneys fail you will need dialysis or a kidney transplant  to survive. Kidney transplant has worked very well in people with Alport syndrome.

More information about Alport syndrome, its symptoms, diagnosis and treatment can be found at the following websites:

Alport Syndrome Foundation
The National Library of Medicine’s Genetic Home Reference
The National Organization for Rare Disorders