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FAQ'S
The following is a list of the most Frequently Asked Questions (FAQs). If you have a question and you would like to ask someone please visit our Forum.
Click on any of the following questions to be connected to that question and answer or scroll down.
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. Generally, Alport Syndrome affects boys more 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. 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 About Alport Syndrome.
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How do I know if I have Alport Syndrome?
The diagnosis of Alport Syndrome is performed 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 of Alport Syndrome.
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Can I be cured of Alport Syndrome?
Being a genetic disorder, there is no 'cure' for Alport Syndrome at this time. There is some promise in stem cell research, but results from this research are years away. That should not be discouraging when we consider that the genetics of Alport Syndrome has only been identified in the past 20 years. For more information about current Alport Syndrome research see Links.
The treatments for Alport Syndrome are outlined in Treatment of Alport Syndrome.
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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 potentially how he/she acquired Alport Syndrome. To some degree it allows understanding about the symptoms and/or timing of symptoms of Alport Syndrome that person will experience. See Genetics of Alport Syndrome 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 of Alport Syndrome for more information about each of these testing methods. See Diagnostic Labs for a list of places where testing can be completed.
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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. See Physician Contacts for a list of physicians that have treated others with Alport Syndrome.
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What research is being done related to Alport Syndrome?
The good news is that there are excellent animal models of Alport Syndrome in mice and dogs. These models are being used in studies of the mechanisms of kidney damage in Alport Syndrome and to test potential therapies.
In addition, emerging research focusing on stem cells gives reason to hope that medical researchers will eventually identify ways to delay or even prevent kidney failure in people with Alport Syndrome. Please see Research/Clinical Trials under the Links section of this website to find out more.
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I want to do something. How do I get involved?
There are many ways that you can be involved. Visit How Can I Help? for a list of opportunities. If you have a particular talent or skill that you think will help please Register and contact us at info@alportsyndrome.org.
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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. It is our intent to provide a central location for information about Alport Syndrome and available support resources. It is also our intent to organize and promote research that advances our understanding and treatment of Alport Syndrome. Finally, by allowing a community of like-minded and like-experienced individuals and families to associate together we recognize that we are not alone, that there are others who understand, and that together we can accomplish more good than we can by ourselves.
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Some call it Alport Syndrome and some call it Alport's Syndrome. Why?
It all depends whom you are talking to or getting your information from. Physicians refer to the disease as Alport's Syndrome. In genetics it is referred to as Alport Syndrome. It has also been known by many other names over the years - such as Hereditary Familial Congenital Hemorrhagic Nephritis (in 1912, 1915, 1923, and 1927), Hereditary and Familial Nephritis (in 1924), Hereditary Interstitial Pyelonephritis (in 1953), and Hereditary Chronic Nephritis (in 1958). These names were used until a better understanding of the genetics of Alport Syndrome was developed. !
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