by 12 people |
Alport Syndrome: Its Cause (and Cure?)
Alport Syndrome is an hereditary kidney disease which typically afflicts men more often than women. What is its cause? Is there a cure?
My primary reason for this lens is personal: I want to keep track of everything I can find out about the disease so that I can take care of my children. Hopefully it will prove helpful to others, too.
My primary reason for this lens is personal: I want to keep track of everything I can find out about the disease so that I can take care of my children. Hopefully it will prove helpful to others, too.
The Cause: Genetics
Just by way of disclaimer: I'm not a doctor and I'm certainly not a geneticist. I'm a web designer. Please don't take what I've got here as some sort of professional medical advice, okay? Because I don't want to accidentally mislead anyone, and I certainly can't afford a malpractice suit. ;)
- Q. Females usually don't end up with kidney failure. How could this be?
A: Alport syndrome is caused by a mutated X chromosome. Females have two Xs and males have one X, one Y. Because of that, females have a "backup" of sorts: the healthy parent's X chromosome protects the female from much of the effects of the bad X. Males only have the one X, so their bodies have no healthy X to protect them. In Alport sufferers, it looks something like this:
- Q: Does Alport Syndrome pass from the male to his children?
A: Sometimes. (Clear as mud, right?) Again, it goes back to the chromosomes: females have two Xs, males have an X and a Y. Therefore, a male will always pass along his X to his daughter(s) and his Y to his son(s). Because of this, the daughter of a male Alport Syndrome sufferer will always inherit his diseased X chromosome, and the son of such a man will never inherit the disease from him (because the son gets the Y from dad--which isn't affected by the disease--and he receives his X chromosome from his mom):
Key Articles
Here are links to some of the best articles out there that tackle this disease:
- National Kidney Foundation: Alport Syndrome
Excerpt: "Alport Syndrome always affects the kidneys. Many people with Alport Syndrome also have hearing problems and abnormalities of the eyes, because the type IV collagen proteins are important to..." (Continue Reading...)- Mayo Clinic: What is Alport's?
Excerpt: "Alport syndrome primarily affects males because the genetic defect is on the X chromosome. In females with the gene defect, the disorder is mild - causing few, if any, signs or symptoms. Women can transmit the abnormal gene to their children..." (Continue reading...)
Alport Syndrome in Real Life
Stories of survival
- In Focus: A photojournalist's journey through kidney failure
I was 7 years old when I was diagnosed with Alport's Syndrome, an inherited kidney disease I received from my mother's side of the family. This rare disorder (2 in 10,000) causes kidney failure and usually develops in people between adolescence and age 40.
Of those diagnosed with Alport's, fewer still develop kidney problems as a result. My mother, Terri, and sister, Allison, also have Alport's, but chances are, because they are women, they will not develop symptoms of the disease. My grandfather died at age 39 from kidney failure related to Alport's. It struck me in 1998 when I was 26. (Continue reading...)- Brian Tissot's Story
Although I had been diagnosed as having a kidney disease since I was very young due to traces of blood in my urine, it wasn't until I was 27 (in 1984) that I was conclusively diagnosed as having Alport's syndrome. Alport's is an auto-immune disease that results in progressive degeneration of certain types of collagen in the body usually, but not always, resulting in hearing impairments, poor vision (via an anterior lenticonus), and kidney failure.
In my case an episode of gout signaled the onset of my kidney problems. For eight years I experienced a slow but steady decline in my kidney function. During this time I was in graduate school at Oregon State University working on my Ph.D. in Zoology, which I completed in 1990. In early 1992 I started as an Assistant Professor of Marine Biology at the University of Hawaii at Hilo. My daughter Alexandra Gabrielle was born in June of that year and in September 1992 I went on dialysis. Up until 1992 I generally felt well and functioned normally except for being constantly tired. I was on a low-protein, low-sodium diet for the last two years and I think that helped delay my kidney failure for perhaps up to a year. (Continue reading...)- sleeping1ion: Doctor's appointment today
- Over the past 5 years or so, I've noticed that doctors and other medical professionals have become more familiar with, and aware of, Alport's Syndrome, which is my particular genetic malfunction. It used to be that I had to explain the whole thing to everybody. More recently, people walk into the room and ask if I have Alport's, or know what it is when they see it in my chart.
- Missy's Blogathon
- In 2003, my best friend David – a Web Applications Engineer at Google – was diagnosed with a life threatening kidney disorder called Alport’s Syndrome.
The Cure: Stem Cells... Possibly!
Reporting in this week's Proceedings of the National Academy of Sciences, the team said the stem cells were able to regenerate damaged renal cells in a mouse model of Alport syndrome, the second most common genetic cause of kidney failure in humans.
Source: Tollidee.com
Source: Tollidee.com
Forums and Message Boards
- Delphi Forum: Alport syndrome
- This Forum is for patients, family, nephrology professionals, indeed everyone interested in Alport syndrome, an hereditary disease of kidneys, hearing, etc.
- Delphi Forum: Alport's syndrome
- To discuss, support, and share information regarding Alport's Sydrome and other ESRDs.
- Delphi Forum: Hereditary Nephritis Foundation NC
- The North Carolina Branch of the HNF; to help raise money for continual reasearch for finding a treatment/cure. Need Celebrities/Sport figures/Singers to help!!!
Amazon: Alport syndrome
Gale Encyclopedia of Medicine: Alport syndrome
Amazon Price: $3.10 (as of 12/01/2009) 
Alport Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers
Amazon Price: $28.95 (as of 12/01/2009)
Molecular Pathology and Genetics of Alport Syndrome (Contributions to Nephrology)
Amazon Price: $184.50 (as of 12/01/2009)
Other Alport Sites
I'm constantly adding new sites to this list as I find 'em!
- German site on Alport Syndrome
- Ooh... looks like everything's an image (even text). Hmm. Well, let's check it out anyway...
- Hereditary Nephritis Foundation (Old Site)
- This site is in the process of being replaced by alportsyndrome.org.
- Hereditary Nephritis Foundation (New Site)
- AlportSyndrome.org coming soon!
New! The Alport Syndrome Foundation
The Alport Syndrome Foundation looks like it's going to become a great resource! I'm keeping tabs on them... Reader Feedback
Do you or a loved one suffer from Alport Syndrome? Do you know of a good resource I've overlooked? Do you have any questions you'd like me to tackle in the FAQ?
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- Stormy2 Stormy2 Jul 25, 2008 @ 8:25 pm
- My love has alports, as does his brother, his other brother and one that died. He was on dyalisis in 91 and got a transplant from me in 92. It was good until now. He is now in need of a new transplant. On dialysis again, not well, torn muscels in various parts of his body, colondectomy, removed gall bladder, heart bypass, barrets syndrome, diverticulitis, carpel tunnel operation, hernia, neuropothy, blood clots, pnumonia, phsydocyst in his pancreus, weak, and it goes on and on. (Spelling not so good tonight). Our son has Cerabral Palsey and his parents have alshiemers disease. Some days I get depressed, but do love them all so very much. Each give me joy in their own way.I would love to say it gets better, but it does not. So I am here to encourage you to live your life to the fullest, not just for yourself, but your family too. What you leave behind in your heart is what will be remembered not your medical conditions. God Bless each and everyone of you.
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- duckretainer duckretainer Jan 6, 2008 @ 2:52 am
- Thanks for getting this information together. It is very helpful. I especially like John's account of everything he went through. My 20yr old boyfriend is currently in renal failure due to alports so I like any information I can get on the subject.
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- elhughes03 elhughes03 Oct 13, 2007 @ 11:44 pm
- My boyfriend and his bros. are txtbook They are the only case were all 3 brothers that have the symptoms. They have all recieved their kidneys by the time they were 26. My boyfriend is 24
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- FESA FESA Sep 4, 2007 @ 10:37 am
- Thanks so much for sharing your personal story and the information about Alport Syndrome. I wish you and your family all the best in your struggles with this disease. God bless! Fran
by seitler
I'm a dad of a little baby boy who appears to be a carrier of Alport Syndrome, an hereditary kidney disease which runs in my wife's family. (more)
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