The Atypical HUS Foundation

Hello all,

I'd like to create a place where current research articles can be posted and sorted by topic. If you encounter a published study or new research article, please feel free to post the article or link in this forum. If you need help, you can certainly send those to me and I will be happy to post the article or link for you. (You can send them to me directly through this site by using the email function at the top right of your home page.)

Additionally, I will read through the article and tag them with relevant tags to make them easy to search (i.e. Soliris, MCP mutation, Factor H, clinical trial, etc.) This way you can search by the tag for an article that's relevant to your situation to share with your doctor.

I am a grad student so my time tends to go in waves of work and waiting, so if you don't hear from me immediately, give me a couple of days!

Thanks to all and I hope this is useful!
--Joy

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5% of aHUS cases have an additional thrombomodulin mutation, which negatively impacts the complement system. This research shows that this additional variation affects those with the CFH mutation.
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Creating this Forum will help educate us all in regard to "current events" in the circles of aHUS investigators, as it will be an invaluable asset to families dealing with aHUS issues. Thanks so much Joy, for coordinating this vital information - and to all who help to enlighten us by their participation!
This is the article in the New England Journal of Medicine talking about the successful use of Soliris in the first two cases in 2008/2009.
Tags: Eculizumab, Soliris, Nurnberg, aHUS
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This is an important addendum concerning the dosage of Soliris in the treatment of aHUS for infants and children (smaller body size affects metabolism).
Tags: Soliris, eculizumab, pediatrics, dosage
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This article is about the successful liver-kidney transplant for two (related) children with the CFH mutation. Another article that I saw (but can't fully access yet) stated that this transplant protocol is useful for the CFH & CFI mutation, but not for the MCP mutation. More on this as I can get to it!

Keywords: CFH, transplant
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This article outlines the protocol for treatment after an initial diagnosis of aHUS, and would be useful to a parent or physician newly experiencing questions about the therapies available. This article was published before the trials of Soliris were available. The article is more useful for listing the research facilities and registries in Europe (no mention is made of American organizations).

Please note that the article mentions the possibility of a connection between the ADAMTS13 mutation and TTP.
Tags: protocol, plasmapheresis, ADAMTS13, TTP, registries, research
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Joy- thank you so much for all the great research information you've consolidated into one place! My husband has been good about finding articles, etc just by periodically googling various key words - but this is just great all in one place! Thanks again!!!

Joy Lewis said:
This article outlines the protocol for treatment after an initial diagnosis of aHUS, and would be useful to a parent or physician newly experiencing questions about the therapies available. This article was published before the trials of Soliris were available. The article is more useful for listing the research facilities and registries in Europe (no mention is made of American organizations).

Please note that the article mentions the possibility of a connection between the ADAMTS13 mutation and TTP.
Tags: protocol, plasmapheresis, ADAMTS13, TTP, registries, research
No problem! I get access to a lot of medical journals through my nursing school, so I try to take advantage of that!
I found an article about the success of bilateral nephrectomy in aHUS cases. It's from '96 but was authored by Dr. Remuzzi in Italy. I hope this helps!
Tags: nephrectomy, plasma resistant
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This article talks about the different clinical manifestations for the different genetic mutations. It's helpful for any clinician (or parent) trying to determine the best treatment for any given form of aHUS.
Tags: CFH, CFI, MCP, ADAMTS13, therapy, protocol
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Here is an article reporting three patients with gain-of-function mutations in Factor B. Experimental data shows the mutant forms have higher affinity for C3 and can override regulatory mechanisms (factor H, iC3b).
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There are currently two pdf files on the "CONFERENCE Forum- TRANSPLANTATION: Issues and Considerations" concerning eculizumab (Soliris) and transplantation. http://www.atypicalhus.org/forum/topics/conference-forum

Perhaps we should move them over to this forum when the conference is over?

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The Atypical HUS Foundation encourages patients and investigators to share information and explore options/resources as we work together to gain insight into this rare complement disorder. By increasing contact opportunities with researchers and medical personnel interested in helping the aHUS community, our stories foster a better understanding of atypical hemolytic uremic syndrome.

Sharing information, inspiration and support for one another, we seek to gather together people and knowledge as we strive to improve the lives of patients and families dealing with a diagnosis of aHUS.


NEW DIAGNOSIS OF aHUS?
Be proactive! Get the medical basics of aHUS, what lab values to monitor, and areas of concern...check out the "aHUS Bootcamp" and "About aHUS" tabs at the top of this page!
If your doctor has never treated a case of aHUS, please print out our 'Doc to Doc Registry' and ask him/her to contact a physician versed in the complexities of aHUS and new options for 2011 genetic testing and treatment.

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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.
  
• • • • • • • • • • • •
  
It is estimated that there are about 2 cases of aHUS in the U.S. per 1,000,000 of population, and about 60% of aHUS patients are diagnosed as children. The condition is potentially life threatening, and either can be chronic or can recur at intervals.
  
more factoids...

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