The diagnosis is usually made after kidney biopsy and from the eye and hearing changes. If someone in the family has been shown to have Alport syndrome, it is not usually necessary for everyone to go through all the tests. Sometimes doing a special test that involves looking at a sample of skin under the microscope can help, but this is a test which can only be done in some centres. There is no simple blood test for Alport syndrome. Trying to find the problem in the gene is very difficult, and it is not likely that a simple test will become available in the near future.
Genetic testing is possible in a few families, where the problem has already been sorted out.
People with Alport syndrome are usually otherwise healthy and do very well on dialysis , and even better after a successful kidney transplant. Because the transplanted kidney has normal type IV collagen, the immune system may see it as 'foreign' and attack it. This causes Alport anti-GBM disease , which is very similar to the kidney disease seen in Goodpasture's disease . Unfortunately it usually destroys the transplant. The Alport Syndrome Home Page was set up by Dr Curtis Atkin, a researcher who himself had Alport syndrome, and who married a nephrologist.