Kidneys Most people with Alport syndrome develop kidney failure in early adult life - in their late teens or twenties. Before kidney function deteriorates, there may be blood and protein in the urine, and high blood pressure may develop. Women may never get much more than these changes, but some of them go on to get kidney failure over decades. Deafness Deafness, at first to high tones, develops at round about the same age as kidney failure in most patients, although some people don't get this. Eyes Harmless changes can quite often be seen at the back of the eye using special tests.
Some patients have lenticonus, an unusual deformity of the lens of the eye.
Women who carry the disease on one of their X chromosomes may have minor kidney trouble, such as blood or protein in the urine with high blood pressure, but occasionally get severe disease and develop kidney failure. In this case, men and women are equally affected, but otherwise the disease seems the same. 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.