Alport syndrome is a hereditary kidney disease that can also affect the inner ear and eye leading to hearing loss and eye abnormalities with vision impairment. It is caused by genetic changes (mutations) that affect protein in the Type IV collagen, which is a present in the tissue structure called basement membranes that are present in kidney, inner ear, and eye. In the kidney, it involves small blood vessel structures called glomeruli, which are responsible for filtering waste products for the blood. This damages the kidney leading to formation of scar tissue and eventually leads to kidney failure.
The patients most commonly presents with blood in the urine (hematuria), which is usually microscopic, means it is only seen on microscope but neither to naked eye nor urine dipsticks. But sometimes patients might have pink or red urine (gross hematuria) for several days, associated with cold or flu. As the disease progresses, additional signs of kidney disease begin to show, such as protein in the urine (proteinuria) and high blood pressure.
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