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Unidentified Disease

PostPosted: Wed Oct 25, 2017 11:03 am
by JohnW99
Hi my name is John, I suffer from an unidentifed CKD similar to Alports, i inherited it from my father, he, his mother and half of his siblings have died from complications related to the same disease.
It shows itself in middle age and results in scarred kidney tissue and a slow decline in GFR; unusually none of us have protein in our urine.
Does anyone else on here have a similar condition?
My family originate from the Stourbridge/Kingswinford area of the West Midlands, UK.

Re: Unidentified Disease

PostPosted: Thu Oct 26, 2017 4:51 pm
by JMan
Hi John.

This forum is a good place to start. It doesn't sound like something I'm familiar with.

The National Kidney Federation also runs forums on the 'Healthunlocked' site here:


https://healthunlocked.com/search/nkf and there are other communities on health unlocked, and a lot of groups on Facebook as well.

Goodluck

Re: Unidentified Disease

PostPosted: Thu Oct 26, 2017 5:37 pm
by SKM23435
Hi John,

Yes my history sounds the same as yours.
CKD unspecified. No blood or protein in urine. Gradual renal decline. Reach dialysis in our 50's. Never had biopsy.

As far as I can see my great grandmother, grandmother and 3 out of her 4 children were affected. I have one unaffected cousin and a brother who is unaffected. It looks like a 50% hit rate.

I' think our story is a minority. Id love to know more about it. I have two children aged 24 and 26. I worry about them.

Sue

Ps it's fascinating considering the treatments we have had over the years. My grandmother died in 1962 before dialysis was widely available, her 3 children were all transplanted. All transplant patients then got much the same treatment, not the personalised care and drugs we get today. Dialysis diet was very different - lots of cream (no wonder dad died of heart disease!).

Re: Unidentified Disease

PostPosted: Thu Oct 26, 2017 9:13 pm
by JohnW99
Thank you JMan, I will give that a try

Re: Unidentified Disease

PostPosted: Thu Oct 26, 2017 9:17 pm
by JohnW99
Thank you Sue, my grandmother died in 1938, not much available in those days. We are about 50/50 too. My father was late diagnosed in 1992 and died from heart damage caused by a high Potassium level.

Hope we can learn more over the next ten years

Re: Unidentified Disease

PostPosted: Sun Aug 26, 2018 7:55 am
by JohnW99
Hi Sue

I have sent you a message.

John

Re: Unidentified Disease

PostPosted: Sat Sep 01, 2018 10:17 am
by Skm
John,

I’ve been locked out of my forum account. No idea why so I’ve had to re register.
Any chance you could resend the PM to this new account.

Thanks
Sue

Re: Unidentified Disease

PostPosted: Tue Sep 25, 2018 3:52 pm
by rheaybou
Could it be that the condition is just a mutation of Alports that has not been identified? My fault is the only reported mutation and is Alports, it seems that more variations are being found.

Prof Albert Ong at Sheffield University is a genetic kidney disease expert attached to Sheffield Northern General and could be a good source of further information or to asses future risk with yourself, family/children via genetic testing. Of three brothers I am the only on effected, bad luck as the middle child!

Re: Unidentified Disease

PostPosted: Fri Nov 02, 2018 10:42 am
by JohnW99
Hi the disease has now been identified as ADTKD-UMOD

Re: Unidentified Disease

PostPosted: Sun Dec 23, 2018 4:25 am
by Skm
Hi John,

Delighted your kidney disease has been identified.
On reading about your condition I suspect I have ADTKD -MUC1.

I was wondering how you got your diagnosis? Who is the top guy or someone who is doing research in this country?
I’m happy to give blood and a family history for research.
I gave blood to the genetics department at St George’s a few years ago. I think they were going to hold onto it but they didn’t have a diagnosis in mind at the time.

All the best for 2019

Sue

Re: Unidentified Disease

PostPosted: Mon Jan 21, 2019 7:22 am
by JohnW99
Hi Sue
Sorry about the delayed reply, I haven’t logged in for a while.
I was sent to see a genetics expert at the QE in Birmingham, my DNA was sent to Cambridge where the disease was identified.
Looking back on it I have not been able to find any other condition which would result in my family’s symptoms, Bland Urine, late onset (40-70) etc
The diagnosis probably won’t help me but I hope it will help future generations.
Good luck with your search, especially if you have children.
John