Fabry disease - causes, symptoms, diagnosis, treatment, pathology
What is Fabry disease? Fabry disease is a rare X-linked condition caused by mutations or pathogenic variants in the GLA gene that codes for a lysosomal enzyme called alpha galactosidase A or alpha-gal A.
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Пікірлер: 57
نشكركم على الجهود التي تبذلها لشرح كثير من المواضيع الطبية النادرة، اتمنى ان اكون مشترك معكم، وتعلمونا على كل جديد.
Thank you very much! Well clear,100% I am the Clinician with a different!
Thank you so much .. very clear !
@osmosis
8 ай бұрын
Glad to hear that! Thanks, Nadia! 🙌🏼
Thank you
I have this and I’m really scared because I’m barely 21 and I don’t want to die young... I was told I had protein in my urine along time ago. As a child I didn’t take it seriously, haven’t been checked in a while, but my Urine is very smelly and cloudy.. 😕 I just wish I didn’t have to deal with this.. I want a normal life
@Zeus-kg1of
4 жыл бұрын
Vivienne V any other symptoms that you had??
@mohamedsebbar2626
2 жыл бұрын
If you have Fabry disease i advise you to take it seriously by taking the treatment you are lucky to diagnosed it before affecting your kidney. My brother he’s 23 and he has kidney failure because of Fabry and he did not know that he has it . Start your treatment to save your organs and you gonna have a normal life. its just an advice .
@pheonixgames4061
2 жыл бұрын
I have it to not very scared tho
@pheonixgames4061
2 жыл бұрын
They diagnosed me at 13 I think so I’ve been getting treated every 2 weeks
@friendatad3777
Жыл бұрын
Do not be scared! Periodic water fasting for at least 3 days once a month will help cleanse and reset your system, along with proper diet (look into renal or keto diet), exercise and a healthy lifestyle. Also avoid alcohol, coffee and smoking.
My father in law has this. Thanks for the info
Thank you!
@osmosis
Ай бұрын
You're welcome! 🙏🏼
Slit lamp exam, not split lamp 🙂
Thank you so much Supercool, as usual
Why would someone dislike this ?
@mommywithnokidsss
3 жыл бұрын
They’re probably mad they got fabry disease
@Broxalax
3 жыл бұрын
Because I hate how sick I am... Just kidding. I am very sick but I would never dislike... Just making.light of a stupid situation
Can you please make a video on Stickler Syndrome?
Could you please update the playlist? It's difficult to scroll through a lot of videos.
4:20. Nice.
please make video on caroli disease
We love you from Iraq
Could you include more detailed info in your videos please🙏🏻?
❤️ from Fiji 🇫🇯
2:40 The 2 FDA approved therapies. ERT and Chaperone therapy
From yemen😁✌🏻
came from doctor john to learn more about this
@adarshkori9570
2 жыл бұрын
Me too!!
What would the possible genotypes be?
Slit lamp* not split lamp
Yeah bro I have this and in Canada we don't do those two treatments... Actually I've never even heard of them lol
@andreayu4964
4 жыл бұрын
Those treatments are definitely available in Canada. Consider asking your primary care provider for a referral to a Geneticist if you want more information. Hope that helps! :)
@camiverge691
4 жыл бұрын
@@andreayu4964 it does thanks! I thankfully dont need this treatments but I found it interesting to hear about these because I never have.
@adarshkori9570
2 жыл бұрын
How are you now? I hope you are good and healthy.
Great video from Iraq too 😁 What a coincidence!
ini langka ya?
Its a slit lamp not a split lamp
anyone else here just because they can not because they actually need to research on anything
🇸🇦 شكرا.
From 🇵🇭🇵🇭🇵🇭
I clicked this video because the name was cute It does not sound like a cute thing to experience :(
@lll3388
4 жыл бұрын
Chimera System I have this 😕
@b0rdn-da-k1ng84
4 жыл бұрын
not very cute when get it in ur most important exam
I have one word “genetics” BTD I have Fabry
reeeeeeeee
@garymericano
2 жыл бұрын
Lol
They way you teach is not good. You started with the mechanism of disease then symptoms and signs. I just watched for 1 minute. First start with definition of the disease man.
@TheVisionary95
4 жыл бұрын
They literally started with the definition - "X linked recessive disease of GLA gene" - what else do you consider to be definition? xD
@alexandrucindrea7159
4 жыл бұрын
I find it way easier to understand the signs and symptoms if i already know the mechanism
@garymericano
2 жыл бұрын
Make your own video doing it better then….