Alport Syndrome (COL4A5-Related) (COL4A5)
Alport syndrome (COL4A5-related) is a pan-ethnic disorder caused by pathogenic variants in the gene COL4A5. It is inherited in an X-linked manner, and therefore males are affected more often and more severely than females. 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 40 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. Although symptoms are similar between all people affected by Alport syndrome, null variants are associated with earlier progression to end-stage renal disease.
For information about carrier frequency and residual risk, please see the residual risk table.