ADTKD-UMOD

This is the forum for the Kidney Patient Guide. We welcome feedback about the site and any information that may be of use or interest to other visitors.

IMPORTANT NOTE: This forum is not for queries that would otherwise be addressed to a doctor. If you have a question about your condition or treatment please consult your renal unit or doctor. We do not have any editorial or medical resources to answer individual queries.

Moderator: administrator

ADTKD-UMOD

Postby JohnW99 » Fri Aug 03, 2018 2:55 pm

Hi

Is there anyone here who has this condition or knows anything about it?
JohnW99
 
Posts: 19
Joined: Wed Oct 25, 2017 10:54 am

Re: ADTKD-UMOD

Postby wagolynn » Fri Aug 03, 2018 3:31 pm

Hi JohnW99,

Ask your consultant or GP about this.

Good Luck.
wagolynn
 
Posts: 1206
Joined: Thu May 23, 2013 2:49 pm

Re: ADTKD-UMOD

Postby JohnW99 » Fri Aug 03, 2018 4:31 pm

Thank you, I hope to find someone who has the condition.
JohnW99
 
Posts: 19
Joined: Wed Oct 25, 2017 10:54 am

Re: ADTKD-UMOD

Postby wagolynn » Sat Aug 04, 2018 7:40 am

Hi JohnW99,

I think it may be better known by some other name in the UK.
wagolynn
 
Posts: 1206
Joined: Thu May 23, 2013 2:49 pm

Re: ADTKD-UMOD

Postby JohnW99 » Sat Aug 04, 2018 8:42 am

Fair point

Autosomal dominant tubulointerstitial kidney disease caused by UMOD pathogenic variants (ADTKD-UMOD) was previously known as familial juvenile hyperuricemic nephropathy type 1 (FJHN1), medullary cystic kidney disease type 2 (MCKD2), and UMOD-associated kidney disease (or uromodulin-associated kidney disease).

also UMOD nephropathy
JohnW99
 
Posts: 19
Joined: Wed Oct 25, 2017 10:54 am

Re: ADTKD-UMOD

Postby bigbuzzard » Sun Aug 05, 2018 11:12 pm

Hi John

I just searched this forum for 'familial juvenile hyperuricemic nephropathy' (see search box, top right), and came up with one mention:

viewtopic.php?f=2&t=172&p=1056&hilit=familial+juvenile+hyperuricemic+nephropathy#p1056 – posted by Mike back in 2004. On one of his other posts he says that he was originally, incorrectly, diagnosed with this. He was still active here in 2017, so may still be around.

Looks like a rare one.
User avatar
bigbuzzard
 
Posts: 1480
Joined: Sun Mar 12, 2006 11:21 am
Location: Devon, UK

Re: ADTKD-UMOD

Postby JohnW99 » Sun Aug 05, 2018 11:49 pm

Thank you, hopefully he may comment
JohnW99
 
Posts: 19
Joined: Wed Oct 25, 2017 10:54 am

Re: ADTKD-UMOD

Postby keithmckd2 » Sun Aug 12, 2018 12:46 pm

Hi,

I had mckd2 pre transplant (it was initially diagnosed as fjhn then I managed to get Tony Bleyer's team at Wake Forest Uni in the US to do genetic testing and it was shown to be mckd2).

My mum had it before me but we don't know for sure of anyone else in the family that has/had it.

Not sure what I can help with but what I know (you may already know) is as follows:

- Renal association have a 'rare renal' group and the condition is one they cover (ask a neph)
- Tony Bleyer's team at Wake Forest seem to want to take the global lead on it and are part of the uk rare renal team
- There's a specialist purine assay team at Guy's in London who can do some detailed testing too (Anne Simmonds' successors)

-In my case I got gout by my late teens and by my mid to late 30s my kidney function was showing a creatinine of 350-500 area.
-I was transplanted in my late 30s (my mum in her early 50s)
-I'm about 14 years post transplant now (in a months time) and my kidney function is still excellent (creatinine 90-100 area usually) and no signs of the old condition returning yet
-I do sometimes wonder if I'll get gout again (as a possible sign of the condition slowly making its way to the foreground again) in another 5 or so years time (ie late teens worth of years since transplant).. but only time will tell and certainly nothing like that so far.
- I don't think the condition is considered to be a bar to being transplanted or retransplanted at all.. my case kinda proves it... if everyone got 15-20 years or more from a transplant that would be very good news indeed!

Anyway, hope this helps a bit.

For any detail though you def need to ask your doctors rather than patients (we all have our idiosyncratic differences which makes each case and the required approach potentially different) (or you can be badly behaved like me and approach Wake Forest Uni and the Guy's purine assay team directly!! ..internet search .. but your docs may not thank you too much for that!)

Anyway.. my experience is that FJHN/MCKD2 (and presumably associated conditions) shouldn't give any reason for fear or worry... it's well understood and easily managed (by way of transplant at the right time) by the docs who know what they're doing.

Good luck

cheers
Keith
keithmckd2
 
Posts: 5
Joined: Sun Aug 12, 2018 12:23 pm

Re: ADTKD-UMOD

Postby JohnW99 » Sun Aug 26, 2018 7:42 am

Hi Keith, yes I am speaking to my doctors but want to hear other peoples experiences, thank you for yours.
My research shows that gout will not come back unless the transplanted kidney fails and that this condition will not cause harm to a transplanted kidney, so thats all good news :)

I know 2 people with the same condition who have had transplants, 1 ten years ago and the other 24 years ago.

Do you have many other people in the family with the same condition?

J
JohnW99
 
Posts: 19
Joined: Wed Oct 25, 2017 10:54 am


Return to The KPG Forum

Who is online

Users browsing this forum: Google [Bot] and 11 guests

cron