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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Thanks for adding this, Grace!

Grace said:
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).
That's a good idea, Grace. Eventually we may need to decide if we should to organize this forum by subtopic, but so far the tags seem to be working well.
Grace said:
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?
This is a great article that Linda found about complement factor B and it's possible ability to override complement factors H & I. They're calling it Super B.

Tags: CFH, CFB, Super B, complement cascade
Attachments:
Here is a brief review published last week in the New England Journal of Medicine by Drs. Noris and Remuzzi.
Attachments:
Thanks for posting this, Grace!

Grace said:
Here is a brief review published last week in the New England Journal of Medicine by Drs. Noris and Remuzzi.
Here is the supplementary appendix for the article
Attachments:
Here is a just-published review on aHUS, complement, and treatment recommendations. The patient characteristics are taken from European registries and published case histories.
Attachments:
Here is a new article on the genetics of aHUS. It looks at patients and family members in the registry from German-speaking countries. Interestingly, it found a 50% penetrance, meaning half of family members carrying aHUS-associated mutations did not develop any symptoms of HUS. This study did not investigate the recently published mutations in Factor B, C3 or thrombomodulin.
Attachments:
Thank you so much Grace for being on top of these new papers, you are an invaluable member of this organization and we really want to thank you.

Grace said:
Here is a new article on the genetics of aHUS. It looks at patients and family members in the registry from German-speaking countries. Interestingly, it found a 50% penetrance, meaning half of family members carrying aHUS-associated mutations did not develop any symptoms of HUS. This study did not investigate the recently published mutations in Factor B, C3 or thrombomodulin.
Thanks so much for posting this, Grace !

Grace said:
Here is a new article on the genetics of aHUS. It looks at patients and family members in the registry from German-speaking countries. Interestingly, it found a 50% penetrance, meaning half of family members carrying aHUS-associated mutations did not develop any symptoms of HUS. This study did not investigate the recently published mutations in Factor B, C3 or thrombomodulin.
I just read through this whole article and it is a good resource for parents & physicians considering transplantation. There is a table showing those patients who are the best candidates for transplantation as well as recurrence rates for different kinds of mutations (see pages 1683 & 1684)--70-90% for those with CFH or CFI mutations who receive just the kidney transplant, vs. 40-50% for those with C3 mutations. Those with MCP mutations only had 20% recurrence.

Another section talks about the need for multiple genetic risk factors for expression of aHUS, not just the complement factor mutations (p. 1682).

There's a wealth of information in this article for anyone pursuing treatment options.

Grace said:
Here is a brief review published last week in the New England Journal of Medicine by Drs. Noris and Remuzzi.
Thanks, Joy! I'm looking forward to reading what's sure to be a truly important article...currently seeking the link/attachment to access this.

Joy Lewis said:
I just read through this whole article and it is a good resource for parents & physicians considering transplantation. There is a table showing those patients who are the best candidates for transplantation as well as recurrence rates for different kinds of mutations (see pages 1683 & 1684)--70-90% for those with CFH or CFI mutations who receive just the kidney transplant, vs. 40-50% for those with C3 mutations. Those with MCP mutations only had 20% recurrence.

Another section talks about the need for multiple genetic risk factors for expression of aHUS, not just the complement factor mutations (p. 1682).

There's a wealth of information in this article for anyone pursuing treatment options.

Grace said:
Here is a brief review published last week in the New England Journal of Medicine by Drs. Noris and Remuzzi.

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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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