What is Alport Syndrome?
Why is Alport Syndrome a cause of ESRD CKD and Dialysis or Hemodialysis?
Alport syndrome is one the inherited disorders that leads to chronic renal failure and often the need for dialysis - hemodialysis.
Alport syndrome primarily affects the kidneys and hearing organs, although the eye may also be affected.
The kidney disease begins in childhood and may progress to complete kidney failure by the teenage years, although the course may be variable. The most common symptom of early kidney disease is hematuria or blood in the urine.
Similarly, hearing loss develops gradually in childhood and is progressive to the point where hearing aides are often necessary.
It has been known for over 80 years that Alport syndrome
(named for a British physician who described several generations of a family with this kidney disorder), that Alport leads to kidney failure primarily in boys. The pattern of inheritance is primarily X-linked recessive. X-linked recessive disorders mean that the gene is carried on the X chromosome. Since boys have only one X chromosome, if the boy has the defective Alport gene, then he will go on to develop kidney disease. Since girls have two X chromosomes, they have a much better chance of having one healthy X gene at the Alport location.
With the advent of genetic mapping in the last decade, it is now known that Alport Syndrome is caused the mutations (changes) in the COL4A3 -4 or 5 genes. The COL4 A3-5 genes code for building blocks of amino acids, important in building a type of collagen protein called Type IV collagen. Type IV collagen is found in the basement membrane lining of the kidney, as well as the ears and eye organs. Defective collagen accumulates in these organs in Alport Syndrome leading to scarring and permanent damage.
There is more information about Alport Syndrome on the
National Institute of Health website:
Alport Syndrome Foundation and Fundraising Events
Alport Foundation Awards Funds to Study Rare Kidney Disease
Dr. Jeffrey H. Miner receives funds to study Combination Drug Therapy and Alport Syndrome
PHOENIX, Ariz. — June 11, 2012 — The Alport Syndrome Foundation is pleased to announce that it has awarded funding to Dr. Jeffrey H. Miner of Washington University, St. Louis, MO, in the amount of $100,000 for a one year study. His research project is entitled Defining Efficacy of Combination Drug Therapy in Alport Mice. Dr. Miner’s project will use a mouse model of Alport Syndrome to test the hypothesis that treatment with an ACE inhibitor already known to prolong the useful life of the kidney, together with a small molecule inhibitor of inflammatory cell mobilization, will lead to an even slower rate of progression to kidney failure than with either treatment alone. Should this combination drug therapy be successful in mice, it will provide the ‘proof of principle’ to justify a similar trial in human Alport patients.
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FAMILY CONFERENCE OFFERS HOPE AND SUPPORT FOR ALPORT SYNDROME PATIENTS AND FAMILIES
Phoenix, AZ, Aug 16, 2012 — The Alport Syndrome Foundation (ASF) sponsored its first Family Conference on July 21 – 22, 2012 at the University of Minnesota. It was the first family conference for this genetic kidney disease in almost 15 years and the only meeting of this magnitude and scope. This two-day conference was attended by nearly 200 patients, family members, and health care professionals. The conference had sessions for parents and teens/young adults.
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updated 8/22/2012
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