Alport syndrome — also known as hereditary nephritis or familial hematuria — is a rare, inherited disorder that is present at birth and damages your kidneys, ears, and eyes. It harms your kidneys by damaging the collagen that forms the basement membrane of the glomeruli — the part of your kidneys that filters waste and excess fluid from your body. Over time, this damage can result in kidney failure.
UPMC experts in inherited kidney diseases provide advanced treatment for Alport syndrome, helping you effectively manage your condition and reduce your risk of complications.
Alport syndrome is a rare, inherited kidney disorder that is present at birth and causes damage to the kidneys, ears, and eyes. It is caused by a defective gene for type 4 collagen that, over time, leads to damage to the glomeruli basement membrane. The glomeruli is the part of the kidneys that filters waste and excess fluid from the body. Over time, this damage can result in kidney failure.
The classic features of Alport syndrome include problems with kidney function that get worse over time, gradual hearing loss, and eye abnormalities.
The earliest and most common sign of Alport syndrome is hematuria (blood in the urine). It is also common to develop protein in the urine as you age.
There are three types of Alport syndrome:
Alport syndrome is a genetic (inherited) condition caused by a mutation or change in the genes that control how the body makes a protein called collagen. Abnormal collagen can cause problems with the kidneys, eyes, and ears.
You may be at risk of Alport syndrome if you have a parent with the condition or a parent who is a carrier of a gene mutation that causes Alport syndrome.
If left undiagnosed or untreated, Alport syndrome can cause serious complications, including:
Alport syndrome is a genetic condition, so it cannot be prevented. However, if you have a family history of Alport syndrome, genetic testing and counseling can help you determine if you are a carrier of the gene and what steps you can take to protect your health.
Alport syndrome is a rare disorder that affects approximately one in 50,000 people.
Alport syndrome is a rare condition that is often undiagnosed or misdiagnosed, so the exact number of cases is unknown. Traditionally, fewer than 200,000 people in the U.S. were thought to be affected by the condition. However, a 2020 study in Kidney International Reports found that type 4 collagen mutations causing Alport syndrome were the second most common inherited single-gene cause of CKD, behind only polycystic kidney disease (PKD).
Symptoms of Alport syndrome include:
The main — and usually the first — symptom of Alport syndrome is hematuria (blood in the urine), which may turn your pee brown, pink, or red.
If you or your child have symptoms of Alport syndrome, you should schedule an appointment with your doctor as soon as possible. Early diagnosis and treatment can reduce your risk of complications.
Several tests are used to diagnose Alport syndrome. Genetic testing may also be performed to confirm the diagnosis.
During your visit, your doctor will:
Blood tests to diagnose Alport syndrome may include:
Urine tests to diagnose Alport syndrome may include:
Other tests to diagnose Alport syndrome include:
Your prognosis depends on the type of Alport syndrome you have. Men with XLAS tend to have more severe symptoms that progress faster, with 90 percent developing kidney failure by age 40. Women with XLAS may not develop kidney problems until later in life.
ARAS affects males and females with equal severity, with most developing kidney failure by early adulthood. ADAS also affects males and females with equal severity but progresses more slowly and doesn’t usually cause kidney failure until late adulthood. Some people with Alport syndrome may remain asymptomatic (showing no symptoms) their entire lives.
Life expectancy depends on the type of Alport syndrome you have, whether you are male or female, and the severity of your symptoms. Although some forms of Alport syndrome cause life-threatening complications during middle age, early diagnosis and treatment can potentially extend your life span.
The goals of Alport syndrome treatment are to manage symptoms, slow the progression of kidney disease, and reduce the risks of serious complications. Treatments may include:
Your doctor may suggest limiting sodium (salt) in your diet and recommend working with a registered dietitian to ensure your diet includes the right balance of nutrients.
Your doctor may recommend other treatments to help manage the effects of Alport syndrome, such as hearing aids to treat hearing loss or eye surgery to treat vision problems.
Medications to manage Alport syndrome may include:
Over time, Alport syndrome can lead to kidney failure, also known as end-stage kidney disease (ESKD). Kidney failure can cause toxic waste to build up in your body. If this happens, you may need to have dialysis, also called renal replacement therapy, to filter and clean your blood.
During dialysis, a machine cleans waste from your blood and helps control your blood pressure.
There are two common types of dialysis:
If you have end-stage kidney disease, dialysis is a lifesaving treatment option. Without it, toxins and fluid would build up in your body and cause death within days or weeks.
However, for most people, dialysis is only a short-term treatment. In time, you may need a kidney transplant.
If you have Alport syndrome, which has caused kidney failure, a kidney transplant may be the key to getting you back to your healthy life. We partner with UPMC kidney transplant experts to provide care before, during, and after transplant.
A kidney transplant is often the best treatment option for people with Alport syndrome, which has caused kidney failure, and kidney transplant recipients typically experience excellent outcomes.
When you choose UPMC for Alport syndrome care, you will receive:
By UPMC Editorial Staff. Last reviewed on 2025-04-24 by Cary Shiwarski, MD, PhD.
