FAQs

The following is a list of the most Frequently Asked Questions (FAQs). If you have a question and you would like to speak with someone please contact us at info@alportsyndrome.org, call (480) 800-3510 or visit our Facebook page.

Click on any of the following questions to be connected to that question and answer.

What is Alport syndrome?

Alport syndrome is an inherited disease of the kidney that can also affect the inner ear (cochlea) and eye. It is caused by genetic mutations that affect the type IV collagen family of proteins. Type IV collagen is a major part of important tissue structures called basement membranes found in the kidney, inner ear, and eye. Boys are affected more severely than girls because 80% of the time the disease is passed on by a mutation on the X chromosome (called X-linked Alport syndrome). Boys only have one X-chromosome whereas girls have two X chromosomes. In girls, the normal X chromosome buffers the effect of the mutated gene so the disease progresses slower. The other 20% of Alport syndrome patients have the autosomal recessive or autosomal dominant form of the disease where boys and girls are equally affected. For a more in-depth explanation see Genetics.

How do I know if I have Alport syndrome?

The primary symptom is blood in the urine (hematuria), which is usually microscopic and can only be detected with a microscope or a urine dipstick. Hearing loss is another symptom of Alport syndrome, although not all patients experience hearing loss. Protein in the urine is another symptom (proteinuria). The diagnosis of Alport syndrome is performed by a kidney doctor or Nephrologist using some or all of these methods:

  • Medical history and physical examination (urinalysis, blood testing)
  • Detailed family history and possibly urinalyses on first- and second-degree relatives
  • Hearing and vision evaluation and testing
  • Renal ultrasound
  • Kidney biopsy analysis
  • Skin biopsy analysis
  • Genetic testing.

For more information about these methods see Diagnosis.

Can I be cured of Alport syndrome?

Being a genetic disorder, there is no “cure” for Alport syndrome at this time. It is an exciting time for Alport syndrome research. There are therapies that are being developed now that promise to improve the treatment of Alport kidney disease and further postpone the need for dialysis and kidney transplantation. For more information about current Alport syndrome research see Research.

Are there any treatments for Alport syndrome?

Until recently most doctors thought that Alport syndrome was an untreatable disease. However, experiments carried out in mice with Alport syndrome showed that several different kinds of medication could slow down loss of kidney function. Preliminary studies in people with Alport syndrome have also provided evidence that early treatment delays the onset of kidney failure. This means that Alport syndrome should be diagnosed early in childhood.

The treatments for Alport syndrome are outlined in Treatment.

How do I know what type of Alport syndrome I have?

There are 3 genetic forms of Alport syndrome. They are:

  1. XLAS or X-linked Alport syndrome
  2. ARAS or autosomal recessive Alport syndrome
  3. ADAS or autosomal dominant Alport syndrome.

The name of each form of Alport syndrome corresponds to the mode of inheritance. For example, the XLAS or X-linked Alport syndrome is associated with a mutation of the alpha-5 chain type IV collagen on the X chromosome. The ARAS and ADAS mutations are associated with the alpha-3 and alpha-4 chain type IV collagen.

Understanding what type, or genetic form, of Alport syndrome allows a person to understand how he/she inherited Alport syndrome and how it may be passed on to their children. See Genetics for more information.

The best way to determine the genetic form of Alport syndrome is to undergo a kidney biopsy, a skin biopsy, or genetic testing. See Diagnosis for more information about each of these testing methods.

How do I find a doctor to treat Alport syndrome?

A doctor that specializes in the treatment of the kidneys is called a Nephrologist. You can find a Nephrologist by asking your general (family) doctor for a referral and/or your insurance company for a list of nephrologists they work with. For help finding a Nephrologist in your area you can contact ASF at info@alportsyndrome.org.

What research is being done related to Alport syndrome?

The vision of ASF is to make Alport syndrome a treatable disease and ultimately to find a cure. ASF and its partners have funded ground-breaking basic science and clinical research projects on Alport syndrome. ASF is forming strategic partnerships to increase the amount of resources applied to making Alport syndrome a treatable disease. To read about the research ASF has funded, go to and to view clinical trials click here.

I want to do something. How do I get involved?

There are many ways that you can be involved. Visit Volunteer (link to Volunteer in Connect section) for a list of opportunities. If you have a particular talent or skill that you think will help please contact us at info@alportsyndrome.org.

What can the Alport syndrome Foundation do for me and/or my family?

The answer to this can be found in the tag line of the Alport syndrome Foundation logo Hope, Action, Support. ASF gives comfort and hope to thousands of men and women impacted by Alport syndrome by providing a network of support and resources. ASF is here to help patients understand the disease and their options for treatment. ASF understands the importance of connection for patients who feel isolated, vulnerable and desperate for answers and holds patient meetings and family conferences to bring patients and medical experts together. ASF is also taking action to raise awareness in both the patient and medical community to maximize the resources available to make Alport syndrome a treatable disease and find a cure.

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