Alport syndrome - causes, symptoms, diagnosis, treatment & pathology
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- Опубліковано 10 жов 2024
- What is Alport syndrome? Alport syndrome is a genetic condition where type IV collagen, a protein component important for the basement membrane, is misfolded, causing issues with the kidneys, the inner ear, and the eyes.
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My doctor told me I was just a carrier, except I have all the symptoms and I'm actually a patient! Most doctors dont understand this disease well. Great video for a patient too! Thank you💕
Glad to help, Jess! ❤️
These videos are so helpful, thank you!
You're welcome, Vincent! 🙏🏼
@@osmosis Plus you read the comments, which is another point for you guys!
Hands down you guys have the best medical videos on UA-cam.
Thanks for the nice feedback, Egzon! 💕
Thankyou so much osmosis ,
You are doing a great job...
It's always our pleasure to help, Yasmeen! 🙏🏼 ❤️ 😊
Thank you now I'll get more points in Quizbowl
Thank you for this video. Please can you make a video for primary hyperoxaluria
Thanks for your recommendation, Esther! Our team will be taking this into consideration. Have a nice week! 💖
Clever presentation
Thanks, Wael! ❤️
Excellent presentation.thanks
You are welcome! 🙏🏼
Extra iron is bad for collagen, and the a1a1a2 is weaker collagen and more easily damaged. I assume that's the reason for symptoms in alport carriers, since carriers should be asymptomatic.
Vitamin C specifically (dramatically) increases gene expression for production of the Alport impacted collagen 4 subtypes, that should probably help a lot (I take 1 g sodium ascorbate powder daily. I used to take much more, had great skin benefit but dropped it because of fear it caused cramps. I know better now, that was lack of calcium intake, so I'll ramp up the C)
Some general comments:
Magnesium deficiency leads to net collagen deposition in the heart. That sounds awfully similar to thickening of basement membrane in advanced Alport. And the reason could be thiamine supplementation, since I believe it is recommended for kidney disease since ckd tends to result in thiamine deficiency. There is high suspicion that extravagant thiamine doses (which are the only doses you can buy, 100x rda requirement) depletes magnesium rapidly.
Why are there more women being treated for alports than men? If most of the cases are X linked (as claimed and only logical), then it should dominate in men, not women...
no fda approved treatments for alport exist
Reading the 2012 study that is used everywhere to 'show' that ace inhibitors prolong life in alport: "Abnormal composition of the glomerular basement membrane due to AS leads to extensive matrix deposition, inflammation, and fibrosis.5,6 These are major components of progressive renal failure in literally all CKDs"
so are they saying alport is indistinguishable from CKD other than some genetic markers? Sure enough, vision impairment is also common in CKD. As is hearing loss..
Regarding the ace inhibitor graph in the study: so the untreated relatives just woke up one day on dialysis, or how does that work? Ok this is what the graph means: they basically grabbed relatives of their patients who went on dialysis but were not in their treatment group. They are much older than group 2 and 1, and we have no idea how they got to being really sick, or how they were treated elsewhere. Whereas we know the children selected in group T1, were totally fine, and still are, other than alport genetic diagnosis. I rest my case.
Hey osmosis ,great fan ,i am consuming vedios from ur app for atleast 1 year.CAN YOU PLEASE MAKE THE VEDIOS ON CANCER BEC ONLY 1 VEDIO IS PRESNT THERE. AND LIKE web version y can’t we read transcript on app
Thanks for your recommendation! Our team will be taking this into consideration. Have a wonderful week! 💖
Do you know of the channel Cognito? These two channels share many similarities, even the intro sound. Do you own both?
My husband has alport syndrome and had holes in his macula and had to have surgery on both.
thank you so much 🙏
You're welcome! 😊
Hey osmosis can you make video on ehler danlos syndrome.
Hi Tamil! We have a video on this topic over at osmosis.org 🙏🏼 You may sign up for a free trial (no credit card needed) to view our library 😊
Best
Here after a phone call from my nephrologist after a genetic test.
❤️
Make video on wiskot Aldrich diseas
Hi Navin! You may hop on to osmosis.org to access our video on this topic and more once you register for a 7-day free trial! 😊