Definition

What is Alport syndrome?

Alport syndrome is a disease that damages the tiny blood vessels in your kidneys, leading to kidney disease and kidney failure. It can also cause hearing loss and problems within the eyes.  Alport syndrome causes damage to your kidneys by attacking the glomeruli- the tiny filtering units inside your kidneys.

There are three genetic types of Alport syndrome.

  • X-linked Alport syndrome (XLAS)
  • Autosomal recessive Alport syndrome (ARAS)
  • Autosomal dominant Alport syndrome (ADAS)

X-linked Alport syndrome: X-linked (related to the X chromosome) is the most common form of Alport Syndrome. About 80% of the people with this disease have the X-linked type. Boys with this type are severely affected and always develop kidney failure sometime in their lives. Girls with this type usually have milder symptoms than boys, but they can develop kidney failure.

Autosomal recessive Alport syndrome (ARAS):  This is when both parents carry the abnormal gene and both parents pass the abnormal gene to the child. Both copies of the abnormal gene are needed to cause the autosomal recessive type of Alport Syndrome.

Autosomal dominant Alport syndrome (ADAS): This happens when one parent has the disease and passes the abnormal gene to the child. In other words, only one copy of the abnormal gene is needed to cause the disease.

How common is Alport syndrome?

Alport syndrome is extremely common. Alport syndrome occurs in approximately 1 in 50,000 newborns. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of Alport syndrome?

With all types of Alport syndrome the kidneys are affected. The tiny blood vessels in the glomeruli of the kidneys are damaged and cannot filter the wastes and extra fluid in your body. Many people with Alport syndrome also have hearing problems and abnormalities with their eyes.

Other signs and symptoms may include:

  • Blood in the urine (hematuria), the most common and earliest sign of Alport syndrome
  • Protein in the urine (proteinuria)
  • High blood pressure (hypertension)
  • Swelling in the legs, ankle, feet and around the eyes (called edema)

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you or your loved one has any signs or symptoms listed above or you have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes Alport syndrome?

Alport syndrome is caused by mutations in three possible genes: COL4A3, COL4A4, or COL4A5. These genes each provide instructions for making one component of a protein called type IV collagen, which plays an important role in the glomeruli of the kidneys. Mutations in the genes associated with Alport syndrome result in abnormalities of the type IV collagen in glomeruli, which prevent the kidneys from properly filtering the blood. As a result, blood and protein pass into the urine. Over time, the kidneys become scarred, which leads to kidney failure.

Type IV collagen is also an important component of the organ of Corti, the inner ear structure that transforms sound waves into nerve impulses for the brain. Alterations in type IV collagen may result in abnormal inner ear functions, which can lead to hearing loss. In addition, type IV collagen plays a role in the eye, where it helps maintain the shape of the lens and the cells of the retina. Mutations found in Alport syndrome may affect the retina and the shape of the lens.

Risk factors

What increases my risk for Alport syndrome?

Alport syndrome is an inherited disease, which means it is passed down through families.  Please consult with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Alport syndrome diagnosed?

Your healthcare provider will have to watch your signs, symptoms, and look at your family history to know if you have Alport syndrome. The following tests or exams may be done to help your healthcare provider make a diagnosis:

  • Urine test: A urine test will help find protein and blood in your urine.
  • Blood test: A blood test will help find levels of protein, and wastes in your blood.
  • Glomerular filtration rate (GFR): A blood test will be done to know how well your kidneys are filtering the wastes from your body.
  • Kidney biopsy: In this test, a tiny piece of your kidney is removed with a special needle and looked at under a microscope.
  • Hearing test: A hearing test will be done to see if your hearing has been affected.
  • Vision test: A vision test will be done to see if you vision has been affected.
  • Genetic test: This can help confirm the diagnosis and determine the genetic type of Alport syndrome you may have.

How is Alport syndrome treated?

Although there is no one specific treatment for Alport syndrome, the goals of treatment include monitoring and controlling progression of the disease and treating the symptoms. Strict control of blood pressure is very important in order to keep the kidneys as healthy as possible. Research suggests that ACE inhibitors, angiotensins, and statins can help reduce proteinuria and the progression of kidney disease. However, treatment of chronic kidney failure often becomes necessary. This can include dietary modifications and fluid restriction. Ultimately, chronic kidney failure progresses to end-stage kidney disease, requiring dialysis or transplantation. Kidney transplantation in people with Alport syndrome is usually successful, but some studies have reported that about 10% of transplanted patients develop inflammation of the kidneys (nephritis).

Treatment for other aspects of the condition are addressed as needed. For instance, surgical repairs of the eye manifestations may be recommended. Loss of hearing is likely to be permanent, but affected individuals can be assisted with hearing aids. Counseling and education to increase coping skills can be helpful. Learning new skills such as lip reading or sign language may be of some benefit. Young men with Alport syndrome should use hearing protection in noisy environments. Genetic counseling may be recommended to explain the inherited pattern of the disorder.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Alport syndrome?

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: March 30, 2018 | Last Modified: March 30, 2018

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