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Alport Syndrome

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.

Looking for Alport Syndrome Care?

Related services include:

  • Kidney disease.

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On this page

  • What Is Alport Syndrome?
  • What Are the Symptoms of Alport Syndrome?
  • How Do You Diagnose Alport Syndrome?
  • How Do You Treat Alport Syndrome?

What Is Alport Syndrome?

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.

What are the classic features of Alport syndrome?

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.

What are the types of Alport syndrome? 

There are three types of Alport syndrome:

  • Autosomal dominant Alport syndrome (ADAS) — Happens when one parent has an abnormal gene and passes it to their child. The most common form, ADAS accounts for 40% to 60% of all Alport syndrome cases.
  • Autosomal recessive Alport syndrome (ARAS) — Happens when both parents have an abnormal gene and pass it to their child.
  • X-linked Alport syndrome (XLAS) — Usually causes more severe symptoms in men and less severe symptoms in women.

What causes 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.

What are Alport syndrome risk factors and complications?

Alport syndrome risk factors

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.

Complications of Alport syndrome

If left undiagnosed or untreated, Alport syndrome can cause serious complications, including:

  • Eye abnormalities such as changes in your lenses and retina.
  • Progressive hearing loss.
  • Kidney failure — also known as end-stage kidney disease (ESKD).

How can I prevent Alport syndrome? 

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.

How common is Alport syndrome?

Alport syndrome is a rare disorder that affects approximately one in 50,000 people.

How rare is Alport syndrome?

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).

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What Are the Signs and Symptoms of Alport Syndrome?

Symptoms of Alport syndrome include:

  • Blood in your urine (hematuria).
  • Eye problems, such as misshapen lenses or abnormally colored retinas.
  • High blood pressure (hypertension).
  • Progressive hearing problems.
  • Protein in the urine (proteinuria).
  • Swelling (edema) in your legs and feet or around your eyes.

What are the first signs of Alport syndrome?

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.

When should I see a doctor about my Alport syndrome symptoms?

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.

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How Do You Diagnose Alport Syndrome?

Several tests are used to diagnose Alport syndrome. Genetic testing may also be performed to confirm the diagnosis.

What to expect during your visit

During your visit, your doctor will:

  • Order blood tests.
  • Perform a physical exam.
  • Review your health history.
  • Review your medication history.

Tests to diagnose Alport syndrome

Blood tests to diagnose Alport syndrome may include:

  • Blood urea nitrogen (BUN) — Shows how well your kidneys are filtering urea nitrogen, a waste product, from your blood.
  • Estimated glomerular filtration rate (eGFR) — Shows how efficiently your kidneys function based on your age, creatinine level, and sex.
  • Serum (blood) creatinine — Shows how well your kidneys are filtering creatinine, a waste product, from your blood.

Urine tests to diagnose Alport syndrome may include:

  • Urinalysis — Looks for blood, protein, and other abnormalities in your urine.
  • Urine output — Tracks how much urine your body produces each day.

Other tests to diagnose Alport syndrome include:

  • Genetic testing — Identifies gene mutations that are linked to Alport syndrome, which can help make a diagnosis.
  • Hearing testing — Checks to see if you are experiencing hearing loss.
  • Kidney biopsy — Involves taking small pieces of kidney tissue for examination under a microscope to check for signs of disease. Only done in rare circumstances.
  • Vision testing — Checks to see if you are experiencing vision loss.

Alport syndrome prognosis

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.

What is Alport syndrome life expectancy?

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.

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How Do You Treat Alport Syndrome?

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:

Dietary changes

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.

Symptom management for Alport syndrome

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.

Medicine to manage Alport syndrome

Medications to manage Alport syndrome may include:

  • Blood pressure medications.
  • Diuretics to reduce the risk of kidney damage.

Dialysis for Alport syndrome

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.

What happens during dialysis?

During dialysis, a machine cleans waste from your blood and helps control your blood pressure.

There are two common types of dialysis:

  • Hemodialysis — Performed using a machine at a dialysis clinic or home three times a week for about three hours.
  • Peritoneal dialysis — Performed through a catheter in your abdomen at home.

How effective is dialysis for Alport syndrome?

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.

Kidney transplant to treat Alport syndrome

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.

How effective is a kidney transplant for Alport syndrome? 

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.

Why choose UPMC for Alport syndrome care?

When you choose UPMC for Alport syndrome care, you will receive:

  • Access to world-class expertise — Our world-renowned experts treat the full spectrum of diseases that affect the kidneys using the latest techniques for diagnosis and treatment.
  • Multidisciplinary care — A team of experts will work with you to develop a comprehensive treatment plan that addresses all aspects of your condition.
  • A full range of treatment options — We offer the latest therapies and participate in clinical trials to advance understanding of disorders that affect the kidneys.

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By UPMC Editorial Staff. Last reviewed on 2025-04-24 by Cary Shiwarski, MD, PhD.

  • Alport syndrome: Causes. MedlinePlus.
  • Alport Syndrome. National Kidney Foundation.
  • Alport Syndrome. Rare Disorders (NORD).
  • What Is Alport Syndrome? Alport Syndrome Foundation.
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