2. Proteinuria: The Sign of Impaired Kidney Function
Proteinuria, or the presence of excess protein in the urine, is another common symptom of Alport Syndrome. The most common cause of proteinuria, or excessive protein in the urine, in Alport syndrome is damage to the basement membrane of the glomerulus, the filtering unit of the kidney.
The damage to the basement membrane leads to a loss of its normal barrier function and allows protein and other substances to leak into the urine. As the disease progresses, it can lead to glomerulosclerosis, a condition in which the glomerulus becomes scarred and loses its ability to filter waste products from the blood effectively. This can result in progressive kidney dysfunction, leading to end-stage renal disease (ESRD) in many cases.
The presence of proteinuria in Alport syndrome is an important indicator of kidney disease and is associated with a worse prognosis. It is important for individuals with Alport syndrome to undergo regular monitoring of their kidney function, including regular measurements of proteinuria, to track the progression of the disease and to initiate early treatment if needed.
Treatment for proteinuria in Alport syndrome primarily involves measures to slow the progression of kidney disease, such as controlling blood pressure and using medications to reduce proteinuria. In some cases, kidney transplantation may be necessary to preserve kidney function and prevent ESRD.
This symptom can indicate that the kidneys are not functioning optimally, and further testing may be necessary to determine the severity of the damage. If left untreated, proteinuria can lead to more severe kidney problems, including kidney failure. (2)
