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Alport Syndrome

Authors

Tejwinder Sandhu
Touro University - California, US

Vineel Kumar
Touro University - California, US

This information is provided for educational and informational purposes only and does not constitute providing medical advice or professional services.

What are the kidneys and what do they do?

The kidneys are two bean-shaped structures located on either side of the backbone. Kidneys play a very important role in the human body.
Each kidney has a million little filters (called glomeruli) that act as a sieve. As blood flows through these filters, the good things (like red blood cells, protein, sugar, etc.) are retained while excess water and waste products are removed via urine.

The kidneys also maintain our blood pressure, provide building blocks to maintain our red blood cells (hemoglobin), and also activate vitamin D to maintain healthy bones.

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What is Alport Syndrome?

Alport syndrome is caused by genetic disorders affecting the kidneys, ears,  eyes, and the vasculature. It is caused by inheriting certain genes responsible for producing collagen, which provides structural support to certain tissues in the body, including the tiny filters in the kidneys called glomeruli. Those that inherit the genes associated with Alport syndrome will have collagen abnormalities that lead to the symptoms associated with this syndrome.

Alport Syndrome can be categorized into three forms based on the inheritance of genes.

  1. XLAS (X-linked Alport Syndrome): Inherited in an X-linked dominant pattern, meaning that a mutation on the X chromosome causes it and affects mostly males. About 80% of males with XLAS develop hearing loss by their teenage years. 

  2. ARAS (autosomal recessive Alport Syndrome): Inherited in an autosomal recessive pattern, meaning that it requires two copies of the mutated gene (one from each parent) to develop the condition. ARAS affects males and females equally. 

  3. ADAS (autosomal dominant Alport Syndrome): Inherited in an autosomal dominant pattern, meaning that it requires only one copy of the mutated gene to develop the condition. ADAS is the rarest form of Alport Syndrome.

Who is at risk for Alport Syndrome? 

X-linked Alport syndrome is the more severe form and makes up about 85% of all cases of Alport syndrome. It commonly affects young boys. In contrast, autosomal (dominant and recessive) Alport syndrome is less severe and affects both boys and girls equally.  

What are the signs and symptoms of Alport Syndrome? 

Signs and symptoms of Alport syndrome may include:

  • Foamy urine due to protein present in urine

  • Red or brown-colored urine due to blood present in urine

  • Hearing loss

  • Vision impairment and cataract formation

  • Swelling (edema) throughout the body, including legs and face 

  • Weight gain due to excess fluid in the body 

  • High blood cholesterol 

  • High blood pressure

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Alport syndrome causes damage to the glomeruli and leads to a loss of proteins from the blood, which can cause high blood pressure and fluid build-up in the body. People with Alport syndrome may also experience hearing loss, vision changes, and vascular complications. Regular checkups for eye exams and hearing tests are essential to monitor changes. Rarely, Alport syndrome can cause aortic aneurysm, for which a screening heart echocardiogram can be evaluated. 

What tests will my doctor perform to diagnose Alport Syndrome?

Alport syndrome is usually suspected based on medical history, clinical examination, vision and hearing tests, and blood and urine tests. Usually, a genetic test and kidney biopsy will be required to confirm the diagnosis. A kidney biopsy is a procedure where a doctor takes a small sample of kidney tissue using a needle and studies the sample under a microscope.

Doctor and Patient

Treatment of  Alport Syndrome

There is no cure for Alport syndrome, but there are ways to manage the condition and slow down the progression of kidney damage. These include medications to control blood pressure and fluid levels, as well as a low-salt diet to help manage kidney function. Medications can manage blood pressure, reduce protein in the urine, and slow the progression of kidney failure in children with Alport syndrome. In severe cases, patients with Alport syndrome may need to undergo dialysis or kidney transplantation to manage their kidney function.

See your healthcare provider regularly to monitor your kidney function and manage related symptoms such as hearing, vision, and heart complications. Follow your healthcare provider’s recommendations for treatment and care for Alport Syndrome. 

Will I develop kidney failure if I have Alport Syndrome? Will I need dialysis? Will I need a kidney transplant?

The likelihood of developing kidney failure with Alport syndrome depends on several factors, including the type and severity of the genetic mutation, the presence of other medical conditions, and whether you are receiving appropriate medical treatment and care. Some people with Alport syndrome may experience mild kidney damage that does not progress to kidney failure. In contrast, others may experience more severe kidney damage that requires dialysis or a kidney transplant to manage. In some cases, Alport syndrome may lead to progressive kidney failure in the late teens to early adulthood.

Receiving regular medical checkups and following your doctor’s recommendations for treatment and care will help to slow down the progression of kidney damage and manage any related symptoms. If you have Alport syndrome and are concerned about your risk of developing kidney failure, it is important to speak with your healthcare provider for more information.

Clinical trials for Alport Syndrome:

New treatments and therapies are being developed for kidney diseases. Ask your doctor if you want to participate in a clinical trial for Alport Syndrome. More information is available at:  www.enrollmypatient.org 

Resources

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  • Connect with peers

  • Share experience

  • Raise awareness

  • Learn about clinical trials

  • Find studies close to you

  • Connect with centers conducting trials

Emerging Therapies

  • Medication under investigation

  • Latest research and clinical studies

  • Recently approved medications

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