It is now known that about 1 in 100 people carry an Alport gene variant (‘mutation’) that could cause disease, but it is inherited with a second normal copy. While most people who have this remain well, a minority do develop kidney disease. The lifetime risk of developing kidney disease is definitely increased, but only a small minority run into serious trouble, and it us usually (but not always) in later life.
We need to learn more about what makes kidney disease more likely in people with this – is it other genes you inherit, or things that happen to you?
This has led to the concept of a spectrum of Alport-related disease. It overlaps with Thin Basement Membrane Nephropathy/Disease. See figure below.
Figure: