Unidentified Disease

[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.

[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

[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!).

[JohnW99]

Thank you JMan, I will give that a try

[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

[JohnW99]

Hi Sue

I have sent you a message.

John

[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

[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!

[JohnW99]

Hi the disease has now been identified as ADTKD-UMOD

[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

[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

[MrsT]

Hi John and Sue

My husband has Uromodulin disease- he has a very similar family history to what you are describing. His father is currently still living 15 years after a successful transplant. My husband is one of four siblings- two of them are affected by the disease as well as some cousins. His grandmother died of kidney disease back in the 70s.

Like John he had his DNA tested at a Cambridge centre to get the correct mutation diagnosis. We also have 2 children and I am so worried about them- the people who tested my husband’s DNA have said they would test our children if we want them to. My husband doesn’t want to test them which is something we don’t agree on. We have time though as our family symptoms tend to start in mid twenties and amour children are only 2 and 4 years old.

Wishing you both the best

Sophie

[JohnW99]

Hi Sophie thank you for sharing, I have one daughter, she is late teens and has decided to be tested when she finishes uni, I don’t see a need for ultra early testing but I think it’s good to be tested at an age before symptoms start to show. My kidney function was tested when I was 36 and it was normal.

John

[wagolynn]

Hi Mrs T,
As there doe's not appear to be anything that can be done if the children's diagnosis was positive, I think I would leave them until they are old enough to make a choice themselves.

In the mean time, enjoy watching, and being instrumental in their growing up, and developing into adults.

Best wishes.