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:
Thanks, Jen. Fascinating information. My dad had kidney stones, but passed away from other causes when he was 46, so I'll never know if he would have gone on to develop CKD. The docs have no idea was caused my Stage 3 disease, but are loathe to do a biopsy. Would be interesting to know if something would show up in the genetic tests you mentioned.
Interesting! My dad had diabetes and so did my sister. My dad followed all the guidelines about eating and exercising. He died of heart disease at 86 with no evidence of CKD. My sis on the other hand didn't eat right or exercise, she developed CKD and died from that (refusing dialysis) at 62. I fall between the two, I need to do better with food but I'm also 79 so I'm on the down hill side anyway.
I have no CKD in my family. So, when I was first diagnosed I wanted to know the cause. I did have a biopsy and found that I had FSGS. It was traced back to a case of step I had at 9 and would up in the hospital with nephritis. 30 years later I had kidney failure.We are all different and I guess it shows "you never know!"
FSGS - is Focal Segmental Glomeruli Sclerosis. Basically means my kidneys were getting all scarred up inside. Today, some 22+ years post transplant, my R native kidney can't even be found on a CT. L kidney is about the size of a gulf ball.
Interesting. My Dr is convinced that I have “thin basement membrane” as the cause. I am otherwise healthy if you don’t count my asthma and anxiety/ depression. My dad, my mother, my dads sister, his dad all had CKD. I don’t know why and what caused it. I’m not convinced my Dr is right because he hasn’t done any tests but instead deduced that cause. Idk. I’m still very upset by it all.
Hi, my prior nephrologist was always guessing about the cause of my ckd too and my dad was told his was from scarlet fever that he had in his 20’s. Seems many folks who find out they have this rare genetic form of ckd are diagnosed incorrectly first. One problem is it is fairly new so many nephrologists are not familiar with it-mine had never heard of it. The other thing is diagnostics (biopsies, ultrasounds) do not detect ADTKD. The only way to know is through genetic testing. With your family history of ckd, please check out the links above and contact Dr. Bleyer. He can go over your history with you and go from there. It’s completely free of charge by the way.
Jamok, what a small world. I just recently found out that I have ADTKD through testing of Dr. Bleyer. My great grandmother, grandmother, 2 uncles, aunt, and mother have went to full stage renal failure. My family has baffled nephs for decades, as we have no other health problems and never show protein in our urine. I am new to all of this and don’t have a lot of information, and I know little is known because it is so rare. Can you tell me what you’ve learned so far? Does the disease in your family occur at generally the same ages?
I have a retina condition and hearing loss so my retina doc had me do a DNA test. We found I have a mutation on one of my genes that can cause all sorts of horrible thing including my retina and hearing issues and kidney disease leading to ESRD. My biopsy showed all sorts of scarring but my kidney doc has attributed it to my BP. I have an appt with him on Nov 22 and will give him a copy of the genetic results. I also have an appt with a genetic counselor on Dec 5th but I don't know what that will bring. I do need to know if this is indeed the true cause of my CKD then what should I provide the transplant team?
I’m sorry you’re going through this but isn’t it a relief to know the reason for your ckd? Before I found out my ckd was due to a genetic kidney disease, I too was told my ckd was likely from high blood pressure but I didn’t even have high blood pressure-it was borderline and my family had a long history of kidney failure. It seems that’s the standard reason nephrologists give when there are no obvious reasons like diabetes. They also like to blame it on ibuprofen usage. So far less than 1000 people have been identified as having my genetic kidney disease, ADTKD MUC 1, because it’s only been recently discovered but it is hypothesized to encompass thousands upon thousands of people that just don’t realize they have it. That’s why I’m trying to get the word out.
My transplant team didn’t need anything in regards to my genetic diagnosis, in fact, because my disease is genetic, and only affects my current kidneys, I should do better with a transplant then someone with diabetes or high blood pressure as their condition remains the same and it’s likely to cause the Ckd in the transplanted kidney.
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