Alport Syndrome

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• My father died of Alport Syndrome several years ago. I was told I would have no problems with the disease, but my sister is a carrier of it, and any male children she would have could be at risk. I've been able to find very little on the disease, and what I have found is pretty technical. What is the disease and how does it affect those who have it?

If you look at a piece of the body's tissue from just about any area of the body under a microscope, you will see something called a basement membrane, which is sort of like "glue" that holds different body tissues together.

In Alport syndrome, there is a genetic birth defect which causes a key ingredient to be missing in the basement membranes of the kidney, the ear and the eye. This leads to kidney failure requiring dialysis, deafness, and eye problems at an early age (20-30 years old). For some reason, men have worse symptoms than women do.

It is seen in about 1 in 5000 people. It mostly runs in families, although there have been cases of a person having the illness without any family members having it.

Some sites that may be useful:
http://www.kidney.ca/alport-e.htm
http://www.delphi.com/alport (support group)

This page last modified March 2001

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