Alport syndrome is a serious heritable condition caused by mutations in the genes that provide the instructions for the production of type 4 collagen, a connective tissue protein. Symptoms of Alport syndrome include kidney disease, eye abnormalities, and hearing loss.

Kidney disease in Alport syndrome

Type 4 collagen is important in the formation of the small capillary networks in the kidney called the glomeruli. These capillaries are important for the filtration of liquids and waste from the blood. The abnormalities caused by Alport syndrome result in poor filtration in the kidneys. As a result, protein and blood pass into the urine.

Over time, these problems become worse, leading to scarring, which reduces kidney function. When the kidneys can no longer filter the blood sufficiently, the patient reaches end-stage kidney disease, also called kidney failure. Most men with Alport syndrome will develop kidney failure by age 50. For women, the symptoms of Alport syndrome are often less severe, though kidney failure can also occur.

Treatments for kidney disease in Alport syndrome

There is currently no cure for Alport syndrome. However, there are treatments that may protect the kidneys and delay the onset of kidney failure, the most common being angiotensin-converting enzyme (ACE) inhibitors, angiotensin receptor blockers (ARBs), and aldosterone inhibitors. These treatments all support kidney function by altering the excretion of fluids and salts such as sodium and potassium. Dialysis, in which a machine is used to filter the blood and remove waste and fluid, can also be used to support kidney function. Patients may also be advised to consume a “renal healthy” diet, which is low in sodium, potassium, and phosphate.

Kidney transplants in Alport syndrome

Once a patient with Alport syndrome has reached end-stage kidney disease, the only treatments available are dialysis or a kidney transplant.

Kidney transplants are generally well-tolerated in Alport syndrome patients. The donated kidney is able to function normally since it does not contain the mutated type 4 collagen genes. However, because the new kidney is from a different person, the patient will have to take immunosuppressant medications to prevent their immune system from attacking the donated kidney.

Although receiving a donated kidney will treat the symptoms of kidney disease in Alport, it will not prevent or treat the hearing loss or eye abnormalities also caused by the disease.

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Alport Syndrome News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.