Alport Syndrome (COL4A4-Related) (COL4A4)
COL4A4-related Alport syndrome may be autosomal recessive or autosomal dominant. The clinical presentation includes progressive kidney disease, hearing loss in childhood, and minor eye abnormalities. Symptoms of kidney disease in early stages include hematuria (blood in urine) and proteinuria (protein in urine). People with Alport syndrome typically progress to end-stage renal disease before 30 years old, which may be treated with a kidney transplant. Life expectancy is in middle age; however new treatments are being tested that delay kidney failure and therefore extend life expectancy. Currently, it is not possible to predict the severity of disease based on the genotype.
For information about carrier frequency and residual risk, please see the Expanded Carrier Screen brochure.