MCP mutations

[Steve Greene]

Please share any information you have about MCP mutations here -- thank you!

[Meg]

I am certainly not an expert on the mutations and what they mean. I only know, from experience, that the MCP mutation can be the easieset route of AHUS to live with. I am told that the message for the AHUS is in the kidney, so the fact that Roger got a transplant tells us if that is true, then he no longer has or will get AHUS.
I reason that if the message is in the kidney, then the most important thing for me to do for Clint, given he still has the kidneys that he was born with, is to avoid trauma to the kidney so the message won't get activated. Trauma to the kidney can be a physical blow or stress caused by dehydration.- So the dehydration part seems logical to me. It appears that it is a logical conclusion to the Drs in the ER, since when I show up to ask them to give Clint IV's and tell them why, they don't turn me away. They comply, and I leave with a much happier boy than the one I brought in. (It seems to cure the gastrointestinal illness as well- I"ve brought him in so sick and hours later left with a boy ready to go back to school, or to soccer practice- it's amazing).
I was only with Roger for his last bout of AHUS. He had been on the golf course with his buddies in 100 degree weather. They had carried their clubs and had a few golden beverages. I would say he got very dehydrated. He had his final bout of AHUS that ended in end stage renal failure within 48 hours.

I am also told that there is a drug in clinical trials right now that might stop the AHUS from progressing once it starts.
All of this news I have learned in the last year, (that the MCP AHUS message is in the kidney and that there is a treatment in the works)-- and so my outlook for Clint is a much more positive one.

Meg

[Heather Still]

This should attach a 2003 article about MCP. If it works I will look in my files for more recent ones.

[Linda Burke]

Meg, this is a most interesting post in many ways. I didn't realize how MCP might be different from other situations, such as factor H. Do you know the name of the drug or the company that makes it? I have heard that Taligen Therapeutics has a drug in the pipeline but do not know further specifics.

Meg said:

I am certainly not an expert on the mutations and what they mean. I only know, from experience, that the MCP mutation can be the easieset route of AHUS to live with. I am told that the message for the AHUS is in the kidney, so the fact that Roger got a transplant tells us if that is true, then he no longer has or will get AHUS.
I reason that if the message is in the kidney, then the most important thing for me to do for Clint, given he still has the kidneys that he was born with, is to avoid trauma to the kidney so the message won't get activated. Trauma to the kidney can be a physical blow or stress caused by dehydration.- So the dehydration part seems logical to me. It appears that it is a logical conclusion to the Drs in the ER, since when I show up to ask them to give Clint IV's and tell them why, they don't turn me away. They comply, and I leave with a much happier boy than the one I brought in. (It seems to cure the gastrointestinal illness as well- I"ve brought him in so sick and hours later left with a boy ready to go back to school, or to soccer practice- it's amazing).
I was only with Roger for his last bout of AHUS. He had been on the golf course with his buddies in 100 degree weather. They had carried their clubs and had a few golden beverages. I would say he got very dehydrated. He had his final bout of AHUS that ended in end stage renal failure within 48 hours.

I am also told that there is a drug in clinical trials right now that might stop the AHUS from progressing once it starts.
All of this news I have learned in the last year, (that the MCP AHUS message is in the kidney and that there is a treatment in the works)-- and so my outlook for Clint is a much more positive one.

Meg

[Linda Burke]

Thanks Heather, the link worked beautifully for me just now. I was taking a peek at Dr. Gary Pien's presentation of atypical HUS and paused to read a bit more carefully about MCP (Membrane Cofactor Protien). Supposedly, 25 different MCP mutations have been identified to date - 32% are "missense" and 18% are "deletions". Dr. Pien's technical presentation, which I found at www.clinimmsoc.org/teaching/slides/atypical_and complement_disorders.ppt , also had an interesting flow chart of the complement cascade.

Heather Still said:

This should attach a 2003 article about MCP. If it works I will look in my files for more recent ones.

[Meg]

That article is a little frightening in that tissue damage is more severe potentially in Clint. It does bring back my theory that Clint shouldn't play contact sports- and GOSH I was just letting him play paintball...
I'll bring it with me to UVA when we next go to get a read. The Drs. there has basically told me that Clint should be allowed to be a kid and not avoid contact sports if he were so inclined.

Heather Still said:

This should attach a 2003 article about MCP. If it works I will look in my files for more recent ones.

[Cheryl Biermann]

(By Bill BIermann)
MCP mutations are probably the "best news" you can hear (I hate to say that), but the reason is quite simple. They are "curable". By Curable, I mean that a kidney transplant has a great chance of succeeding.
The reason?
Factor H, and Factor I mutations are proteins that flow in the blood stream. Therefore, the problem in Factor H and Factor I does NOT ORIGINATE in the kidneys....the kidneys happen to be an organ that are the end problem in a chain reaction.
MCP, on the other hand, is a "Coating" on the kidney. In a-HUS, the coating is not working properly but if you receive a kidney transplant, the coating will be present , and the kidneys will work properly---the good coating will not go away.
All good so far. But you know it can't be simple.
Sp sorry, but not i have to get more complex with you. When kids first get treated for a-HUS, standard protocol is plasma infusions or plasma exchange. You have got to do that.. However, in a-HUS kids with MCP. Plasma SHOULD NOT really work on MCP kids. The reason? Plasma does not contain MCP proteins,..... the kidney is either coated with MCP or not coated.....plasma does not help coat them. So nothing in the Plasma should help MCP.
So that presents a second problem. Some MCP kids DO seem to respond to plasma. WHY IS THAT? Well, if thats the case, then it means there IS A SECOND PROBLEM, and more testing is needed. If the Factor H tests were negaive, then a second round of tests are needed to look for Either Factor H auto anitbodies, or Factor H related Genes.
i hope that helps. I have some papers on that....but the papers are written by smart folks who spent 12 years in Med school. not folks like me, who struggled in K -1 !!! (Bill Biermann)

[Kelly Crumbaker Hubbard]

I apologize for my absence. I carry the MCP mutation as an adult and was tested following dx of my son who also has the MCP mutation. We have as yet persued further familial testing. If anyone would like to contact me regarding their situation ad treatment protocol, please feel free. We have had many changes in the past year and I have neglected communication. I hope all is well with everyone.   Kelly

[Cheryl Biermann]

Hi Kelly,

 

Yes we missed you!  Someitimes it is helpful to go ahead and add new information, because it may help someone in the early stages of a relapse.   That was the theory behind aHUS Boot Camp.  I often refer back to it when we hit a new bump in the road.  Failing something there, I look through the blogs and forums; failing to find info. there, I go ahead with a new post! 

 

It is so cool you've had such a long remission! 

  umbaker Hubbard said:

I apologize for my absence. I carry the MCP mutation as an adult and was tested following dx of my son who also has the MCP mutation. We have as yet persued further familial testing. If anyone would like to contact me regarding their situation ad treatment protocol, please feel free. We have had many changes in the past year and I have neglected communication. I hope all is well with everyone.   Kelly!

[Kelly Crumbaker Hubbard]

I think that my email link is inactive.... I had to search the sight and then found your response. You are gracious as always for responding. We have not posted in a while... had a huge transition, and sometimes feel reluctant to post bc Kegley is doing well. I would like to post more often bc I think sometimes MCP is the golden child of AHus, however, because of that we are unable to get physicians on board, we do have constant fear that minor flu or medication errors will cause an episode and we will be on our own to find the best course of action. I am certainly not saying that this is comparitive to the stress everyone else deals with from day to day, but it is there, and prevalent in all of our decisions. We do not have a good case for fundraising, and if we tell people that Kegley could be very sick they think we are silly protective parents who are exagerating. I hope that we can help someone else through our experiences....

Cheryl Biermann said:

Hi Kelly,

 

Yes we missed you!  Someitimes it is helpful to go ahead and add new information, because it may help someone in the early stages of a relapse.   That was the theory behind aHUS Boot Camp.  I often refer back to it when we hit a new bump in the road.  Failing something there, I look through the blogs and forums; failing to find info. there, I go ahead with a new post! 

 

It is so cool you've had such a long remission! 

  umbaker Hubbard said:

I apologize for my absence. I carry the MCP mutation as an adult and was tested following dx of my son who also has the MCP mutation. We have as yet persued further familial testing. If anyone would like to contact me regarding their situation ad treatment protocol, please feel free. We have had many changes in the past year and I have neglected communication. I hope all is well with everyone.   Kelly!

[Cheryl Biermann]

Yes, it is goofy people just do not understand this disease can strike violently at any time.  I would compare it to "hidden heart \

defects  When people's eyes glase over, and they get that, "here we go again look," try that as an anology, or maybe you've come up something better, like the tornatos that are possible when the right conditions are present!

 

Any time you'd like to blog a little about MCP, and your struggles to get treatment, or to have people understand, or you need to vent, we're here-you don't need to have a child with constant struggles to need a place to have an understanding ear!  Don't forget the private messaging option either.

 

Cheryl

[debbie thelwell]

Kelly Crumbaker Hubbard said:

I apologize for my absence. I carry the MCP mutation as an adult and was tested following dx of my son who also has the MCP mutation. We have as yet persued further familial testing. If anyone would like to contact me regarding their situation ad treatment protocol, please feel free. We have had many changes in the past year and I have neglected communication. I hope all is well with everyone.   Kelly

[debbie thelwell]

Hi My son was diagnosed in 2009 with MCP we constantly live in fear of a reoccuring episode we have been to the hospital twice in the last 2 weeks for bloods because he's been unwell and had high protien in his urine its been so stress full any tips on how to cope. I know MCP is rare how oftern have people been having reoccurances?