The Foundation for Children with Atypical HUS

My question - is there a possibility? I read somewhere that if genetic testing came back negative that auto immune deficiency should be investigated. We only recently had the results of our daughter's genetic tests (which were negative) and when I mentioned the auto-immune avenue to our consultant he was happy to go down the route of investigation. There is a high incidence of auto-immune disease in my family and I would love to know if this could be a trigger or facilitator of aHUS. Is there any evidence out there?

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Hi Kerri,
I'd much rather know, working from a position of knowledge always strenghtens my resolve to make informed decisions...but perhaps that's my personality, too. Many of our aHUS kiddos have completed genetic testing at more than one lab only to have their test results come back "inconclusive". The University of Iowa is a CLIA - accredited lab, with 3 researchers delving into the mysteries of aHUS - I think they do a great job! (Tara and Drs. Smith and Brophy are website Members) I'm sure Ash's doc sent his blood to undergo genetic screening at a reputable lab, but if you have technical questions you can check out the Links Box to persue questions regarding genetic screening.
While case comparisons are tempting, no two aHUS cases are alike- not even with siblings- and aHUS patients often have different presentations, frequencies of events/treatments, and involvement with other issues (sight, seizure activity, etc). Guess the term 'atypical' is truly apt!

Kerri Grey said:
Thanks Linda, i dont know whats worse to know or not to know. Are you saying that you think Ashley should have his genetic testing done somewhere else. Do these other labs that you have mentioned offer more extensive testing...i dont know much about the testing side of things all i was told is that the UK tested some when that came back negative more were sent to France and was told about 6 weeks ago that they also came back negative i know another a little girl who was diagnosed after ashley and she has tested positive to aHUS factor H she had plasmaphersis for about 8 months and has been completely fine...no longer has plasma, never had dialysis, and has had no flares.

Linda Burke said:
The same results at both labs for Hunter, factor H with a mutation at the terminal end SCR 20, a 'hot spot' for aHUS mutations. Skyler was only screened at Iowa, sad to say with the same results: factor H, SCR 20.

Kerri Grey said:
HI Linda,
Did you get the same results from both of the labs or did you get different results???

Linda Burke said:
Hi Kerri,
We had Hunter's blood sample sent to Dr. Remuzzi's lab in Italy (he and his team are credited with many important aHUS articles), then when the University of Iowa began its aHUS genetic testing program we sent both boys blood samples there for testing (see the Links box on this site's Home Page).
HI Linda,
I'm very much the same, i would love to know...However from what i know(very little when it comes to genetic testing) Ash has been tested for all know genetic mutations. I would love to find out if there was a lab though that did do different tests.

Linda Burke said:
Hi Kerri,
I'd much rather know, working from a position of knowledge always strenghtens my resolve to make informed decisions...but perhaps that's my personality, too. Many of our aHUS kiddos have completed genetic testing at more than one lab only to have their test results come back "inconclusive". The University of Iowa is a CLIA - accredited lab, with 3 researchers delving into the mysteries of aHUS - I think they do a great job! (Tara and Drs. Smith and Brophy are website Members) I'm sure Ash's doc sent his blood to undergo genetic screening at a reputable lab, but if you have technical questions you can check out the Links Box to persue questions regarding genetic screening.
While case comparisons are tempting, no two aHUS cases are alike- not even with siblings- and aHUS patients often have different presentations, frequencies of events/treatments, and involvement with other issues (sight, seizure activity, etc). Guess the term 'atypical' is truly apt!

Kerri Grey said:
Thanks Linda, i dont know whats worse to know or not to know. Are you saying that you think Ashley should have his genetic testing done somewhere else. Do these other labs that you have mentioned offer more extensive testing...i dont know much about the testing side of things all i was told is that the UK tested some when that came back negative more were sent to France and was told about 6 weeks ago that they also came back negative i know another a little girl who was diagnosed after ashley and she has tested positive to aHUS factor H she had plasmaphersis for about 8 months and has been completely fine...no longer has plasma, never had dialysis, and has had no flares.

Linda Burke said:
The same results at both labs for Hunter, factor H with a mutation at the terminal end SCR 20, a 'hot spot' for aHUS mutations. Skyler was only screened at Iowa, sad to say with the same results: factor H, SCR 20.

Kerri Grey said:
HI Linda,
Did you get the same results from both of the labs or did you get different results???

Linda Burke said:
Hi Kerri,
We had Hunter's blood sample sent to Dr. Remuzzi's lab in Italy (he and his team are credited with many important aHUS articles), then when the University of Iowa began its aHUS genetic testing program we sent both boys blood samples there for testing (see the Links box on this site's Home Page).
Hi Kerri & Linda - interesting discussion! Amy's blood has only been tested in the UK and when we asked if there was anywhere else which might do more "thorough" testing we were told no. Kerri, I would be interested to know what was tested for in France, in Ashley's blood, that wasn't tested for in the UK. Although both results were negative do you know if they tested for different mutations in each country,or if the French lab just confirmed the English results?
Hi there,
If you click on the University of Iowa's genetic testing link on this website's 'Links Box' on the Home Page, their MORL laboratory's (CLIA- accredited) page has good info. On their left hand side of the MORL Home Page, their second option "Genetic Testing" will display the 7 aHUS mutations that comprise the U of Iowa's genetic screening. With all due respect to the wonderful aHUS researchers, facilities,and laboratories, I am not personally aware of another lab that does more comprehensive testing for aHUS mutations. Should your review this lab's genetic screening and find more comprehensive aHUS genetic screening at another lab, we'd all appreciate knowing what additional genetic screening is available at another facility. With thanks to anyone who can provide additional info, Linda Burke

Elizabeth Farrell said:
Hi Kerri & Linda - interesting discussion! Amy's blood has only been tested in the UK and when we asked if there was anywhere else which might do more "thorough" testing we were told no. Kerri, I would be interested to know what was tested for in France, in Ashley's blood, that wasn't tested for in the UK. Although both results were negative do you know if they tested for different mutations in each country,or if the French lab just confirmed the English results?
If you would like to send blood work to the University of Iowa, it is very doable, even from across the seas. With a few extra precautions, you can have the most comprehensive testing available to my knowledge.

Linda Burke said:
Hi there,
If you click on the University of Iowa's genetic testing link on this website's 'Links Box' on the Home Page, their MORL laboratory's (CLIA- accredited) page has good info. On their left hand side of the MORL Home Page, their second option "Genetic Testing" will display the 7 aHUS mutations that comprise the U of Iowa's genetic screening. With all due respect to the wonderful aHUS researchers, facilities,and laboratories, I am not personally aware of another lab that does more comprehensive testing for aHUS mutations. Should your review this lab's genetic screening and find more comprehensive aHUS genetic screening at another lab, we'd all appreciate knowing what additional genetic screening is available at another facility. With thanks to anyone who can provide additional info, Linda Burke

Elizabeth Farrell said:
Hi Kerri & Linda - interesting discussion! Amy's blood has only been tested in the UK and when we asked if there was anywhere else which might do more "thorough" testing we were told no. Kerri, I would be interested to know what was tested for in France, in Ashley's blood, that wasn't tested for in the UK. Although both results were negative do you know if they tested for different mutations in each country,or if the French lab just confirmed the English results?
Thanks for the info Kerri.
Glad to hear they test differently.
I have had Germany and Italy come up all negative. Maybe France will find us answers....

Kerri Grey said:
Ashley had his genetic testing sent to France and to UK...they apparently both test for different mutations...both came back negative!!!

Theresa Pereira said:
Olivia's results all came out negative. We had an appt with the nephrologist this week who explained trigger can be either auto immune or genetic. We pray it's auto immume that can be out grown or "self corrected" as opposed to genetic, well there is nothing you can change about that!!
There are excellent labs in France and Italy studying HUS. Discuss with your Dr to maybe send bloods there.
Hi Elizabeth,
Im not sure which test were done where but yes the UK and France did do different tests, they both looked for different mutations. If you like i can try and find out from Ash's doc which tests were done in the UK and which ones were done in France...it would be worth looking into incase your docs are just saying "no" because they dont want to pay to send the blood to another country because i know it has cost alot of money to send Ash's blood overseas.

Elizabeth Farrell said:
Hi Kerri & Linda - interesting discussion! Amy's blood has only been tested in the UK and when we asked if there was anywhere else which might do more "thorough" testing we were told no. Kerri, I would be interested to know what was tested for in France, in Ashley's blood, that wasn't tested for in the UK. Although both results were negative do you know if they tested for different mutations in each country,or if the French lab just confirmed the English results?
Thanks for the info Kerri. Funny you should mention the cost of testing as I got the distinct impression that the testing done in the UK was within financial constraints. I have checked out the mutations tested for in Iowa, as Linda suggested, and I'm pretty sure Amy has only been tested for 3 out of 7 (Factor H, I and MCP).I think we will wait for the results of the anti-body tests and then have a discussion with the consultant about further testing abroad, which we will pay for if necessary.I would be more than a bit miffed if I thought that Amy's case hadn't been investigated as thoroughly as humanly possible just because of NHS budget guidelines! I would have thought that with such a rare disease almost any investigative costs could be justified. Maybe I just have a skewed view!
Thanks Linda and Cheryl for your suggestions, and Theresa for your info. This is where this site comes into its own, as we were lead to believe that whilst Amy's aHUS could still be genetic, despite the negative results, other mutations were not able to be tested for. Obviously, we were miguided or possibly misunderstood.It's good to know there are still other avenues to explore, even if the ultimate results are still inconclusive!
HI Elizabeth,
I am not entirely sure but i think the tests that you mentioned (factor H, I and MCP) are the ones that Ash had tested in the UK, i think he had the others done in France but i am going to check next week with Ash's doc if he has had all of those tests that they do in Iowa!!! If they are the only tests Amy has had i would definitely be mentioning this to her doc as i know for sure Ashley has had more than that done just not entirely sure if he has had ALL of them.
Your welcome, I am just happy to pass the information along!

Elizabeth Farrell said:
Thanks for the info Kerri. Funny you should mention the cost of testing as I got the distinct impression that the testing done in the UK was within financial constraints. I have checked out the mutations tested for in Iowa, as Linda suggested, and I'm pretty sure Amy has only been tested for 3 out of 7 (Factor H, I and MCP).I think we will wait for the results of the anti-body tests and then have a discussion with the consultant about further testing abroad, which we will pay for if necessary.I would be more than a bit miffed if I thought that Amy's case hadn't been investigated as thoroughly as humanly possible just because of NHS budget guidelines! I would have thought that with such a rare disease almost any investigative costs could be justified. Maybe I just have a skewed view!
Thanks Linda and Cheryl for your suggestions, and Theresa for your info. This is where this site comes into its own, as we were lead to believe that whilst Amy's aHUS could still be genetic, despite the negative results, other mutations were not able to be tested for. Obviously, we were miguided or possibly misunderstood.It's good to know there are still other avenues to explore, even if the ultimate results are still inconclusive!
I am very fortnate that all is free in Canada...

Elizabeth Farrell said:
Thanks for the info Kerri. Funny you should mention the cost of testing as I got the distinct impression that the testing done in the UK was within financial constraints. I have checked out the mutations tested for in Iowa, as Linda suggested, and I'm pretty sure Amy has only been tested for 3 out of 7 (Factor H, I and MCP).I think we will wait for the results of the anti-body tests and then have a discussion with the consultant about further testing abroad, which we will pay for if necessary.I would be more than a bit miffed if I thought that Amy's case hadn't been investigated as thoroughly as humanly possible just because of NHS budget guidelines! I would have thought that with such a rare disease almost any investigative costs could be justified. Maybe I just have a skewed view!
Thanks Linda and Cheryl for your suggestions, and Theresa for your info. This is where this site comes into its own, as we were lead to believe that whilst Amy's aHUS could still be genetic, despite the negative results, other mutations were not able to be tested for. Obviously, we were miguided or possibly misunderstood.It's good to know there are still other avenues to explore, even if the ultimate results are still inconclusive!
Hi all. We live in the UK and my son's bloods were sent straight to France for testing. He also tested positive for aHUS with factor H with a mutation at the terminal end SCR 20.

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Did you know...

CFH (Serum Complement Factor H) is a regulatory protein. The secreted protein product of CFH consists of 20 repetitive units named "short consensus repeats" or SCRs (each approximately 60 amino acids). In patients with aHUS the last 5 "pearls" in the twenty pearl strand protein, SCR16 - SCR20, should bind to protect cells but do not- they are defective in one or more of the last 5 SCR locations. If they cannot bind or stick to the kidney to protect that tissue, the platelets clump into clots that affect the glomeruli of the kidney -potentially causing acute renal failure.
  
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It is estimated that there are about 300 cases of aHUS in the U.S., and it is most common with young children. The condition is life threatening and either can be chronic or can recur at intervals.
  
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