#ECNeph
This is my first case of Fabry! I've only read about it till now..

There ia a rare disease registry which provides data in India..
rdrdb.icmr.org.in/registry/

Also some data here 👇👇
lsdssindia.org/about-lysoso...

12/n 🎉 Voila!
📜 Genetic report + enzyme analysis = #FabryDisease diagnosis confirmed!🧬✅
🔹 Low α-Gal A 🧪 + GLA mutation 🔍
🧐 Pathology hinted, genetics sealed it!
💊 Now, let’s talk treatment! 🚀 #Nephrology #Genetics

#ECNeph
@myadla.bsky.social @theisn.org

@ferarceamare.bsky.social @renfamilia.bsky.social @kajareeg.bsky.social @arvindcanchi.bsky.social @dilushiwijay.bsky.social @rowanzyada.bsky.social #ECNeph

No such data available! But that is an interesting theory and plausible!!
#ECNeph

Yes.. it was normal #ECNeph

Yes we did check levels!

It was 455 ng/mL!!! which was normal

#ECNeph