The Foundation for Children with Atypical HUS

CFH/CFHR1 hybrid

Hi all,

I had sent my blood samples to Dr. Goodship's lab in the UK. They got back to me saying that I had an abnormal form of Factor H called CFH/CFHR1 hybrid. This, they added had an 80% chance of aHUS recurrence after a transplant.

I guess Soliris will help with this as well going by all the news.

Does anyone else here have this genetic abnormality? Any idea what this means?

Thanks
Kamal

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Comment by Kamal D Shah on January 26, 2011 at 7:27pm

Thanks Cheryl for trying!

 

Kamal

Comment by Cheryl Biermann on January 26, 2011 at 11:41am

Hi, Kamal

Finally!  I am so glad you now know what the mutations are that you are dealing with.  I am still trying to find someone with info for you about moving...we have a name but no on is calling back.  We'll keep trying that and keep bugging people.

Comment by Bill Biermann on November 1, 2010 at 2:18pm
Kamal,
if you can send me details off line, maybe i can shed some light on that. Did they call it a "Fusion Protein" whereby a missing portion of FHR1 joined directly with CFH ? Bill Biermann
BBiermann@Premier-ks.com
Comment by Cheryl Biermann on October 24, 2010 at 6:33pm
Kamal,

What a relief for you to finally have an answer! Good luck pursuing your options, we are going ahead with plans, watching all the studies and hopefully going to get started at the end of this year or early next year. Our doc wants to see more of the studies, (which will be released in Nov.), before proceeding; his caution is because no one else has the same mutation as Nathan, so I wish you luck in finding someone "just like you"!

Nathan's is a Factor H Related also, so I'm happy those with Factor H are doing so well!

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The Foundation for Children with Atypical HUS 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.

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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 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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