Alport Syndrome

A doctor speaks – what is Alport Syndrome?

Alport Syndrome is a rare inherited condition that can cause progressive kidney damage, hearing loss and eye abnormalities. The most common form is X-linked Alport Syndrome which affects approximately 85% of people with Alport Syndrome*. The other form affecting approximately 10-15% of people is called autosomal recessive Alport Syndrome*. People who are ‘carriers’ of the autosomal recessive form are sometimes referred to as having autosomal dominant Alport Syndrome. There is some change and debate about the naming of the term autosomal dominant as well as the term ‘carrier’.
Alport Syndrome can affect a large number of people in a family, although occasionally it is spontaneous in mutation which means that the person is the first to get it in their family. Below, Professor Neil Turner, Consultant Adult Nephrologist and Professor Frances Flinter, Consultant Geneticist explain the genetic causes of Alport Syndome and treatment outlook. To find out more about specific topics like treatment and diagnosis, click on the topic summaries on the left.

*Savige J, Colville D, Rheault M, Gear S, Lennon R, Lagas S, Finlay M, Flinter F. Alport syndrome in women and girls. Clinical Journal of the American Society of Nephrology. 2016 Sep 7;11(9):1713-20.

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