COL4A5

Parents

Alport syndrome is characterised by blood in the urine (hematuria), and progressive loss of kidney function so that eventually affected males and some affected females develop kidney failure requiring dialysis or a kidney transplant, as well as a hearing loss and some minor eye abnormalities.

XL Alport syndrome affects about one in 2000 people but some have very mild disease. Inheritance is X-Linked which means that an affected father will not have an affected son but all his daughters will be affected. In contrast, an affected mother will have on average, half her sons and half her daughters affected.