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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This is difficult to understand and hard to follow the statistics/DNA notation.

But look at Table 3 in the paper  and look at columns 6, 7 & 8 and the combinations of  As Gs Ts ( DNA notation)  of  affected and unaffected ,and of the unaffected carriers only  ID 6:9 would look to be the one who is most likely to on set, the others most likely will not because they have at least one  or both of the favourable modifiers AA , GG

I would wager that something like this will explain incomplete penetrance for the the past, and predict for the future, for other mutations/significant variants too in time.

My "avator" is one of Prof. Goodship's diagrams to illustrate it. 

  

Cheryl my amended version did not save in time and the point I wanted to make  about the 3 generation example  mentioned earlier.Look at IDs 4.21 5.27 and 6.18 in Table 1- the Family Tree  and then their AAs GGs combination in Table 3   

Thank you, Len, for expounding the relevant points. Cheryl, it does boggle the mind a bit! I do think it is possible that family members carrying other aHUS mutations such as in MCP could have the protective CFH haplotype studied in this paper. And it is certainly possible that additional protective (and/or detrimental) genetic variants exist and will be found. At the Iowa meeting, Bu already mentioned mutated F10 (Factor X, a clotting factor) likely protecting some family members carrying a Factor H mutation from developing aHUS. He also just presented this at the American Society of Nephrology annual meeting; the abstract is available here.

Thanks Grace I was just about to post something on the aHUSUK website and so was able to update it with the ASN abstract  http://ahusuk.org/why-do-some-at-risk-of-ahus-not-on-set-some-answe...

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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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