Alport/Haematuria Panel

Alport syndrome and related haematuria conditions are genetic kidney disorders that can lead to blood in the urine (haematuria), kidney failure, hearing loss and eye problems.

Alport syndrome is an inherited disorder that damages the glomerular basement membrane (GBM) in the kidneys. This damage impairs the kidneys' filtering ability, causing blood and protein to leak into the urine (haematuria and proteinuria, respectively). In the absence of treatment, this leads to progressive loss of kidney function and can result in kidney failure. The syndrome also causes sensorineural hearing loss and eye abnormalities. Alport syndrome is a rare disease; it affects approximately 1 in 5,000 to 1 in 50,000 people, depending on the population and study. It is caused by genetic variants in genes that code for type IV collagen: most commonly in COL4A5 (X-linked inheritance), but also in COL4A3 and COL4A4 (both autosomal dominant and recessive inheritance).