Finally an answer-Mucin 1 ADTKD

[Jamok]

Hi ckd friends,

Do you have a family history of kidney disease that includes a parent, grandparent, Aunts and uncles etc with no explanation for the cause? Do you have a bland urinalysis (no blood and little to no protein), with near normal blood pressure and all your other labs are in line? So did I! My family history(includes my dad, my grandfather, my uncle, my brother and my brother’s daughter) of kidney disease was a mystery that left my nephrologist scratching her head until my niece experienced pre-eclampsia during the delivery of her first child and experienced acute kidney failure. She was referred to a geneticist who finally solved our ckd mystery with a simple blood test that looked for a newly discovered genetic mutation that causes ckd. If you are like me, I highly suggest you check out autosomal dominant tubulo-interstitial kidney disease- ADTKD. There are two major variants: MUCIN 1 and UMOD(May include a history of gout). Please read:

statnews.com/2022/05/02/ann...

And check out the website:

rarekidney.org/

I hope some of my fellow ckd warriors will finally find the answer you have been looking for!

All the best,

Jen