Combined Factor H & I mutations?

[Jaime Sheeder]

Hi all,

 

In a recent note we found out that Nick not only had the factor H gene mutation but factor I as well.  Which makes our decision to transplant even more of the right decision.  But what I am most curious about is are there any other families out there that have experienced the combined CFH-CFI mutation?  Nick is the fourth family member to have been diagnosed with AHus and the youngest.  The other family members only had the factor H gene mutation and were diagnosed as adults.  They are concluding this combined mutation is what caused Nick's early onset.  Both my mother and myself have the same gene mutation however escaped the disease.  Obviously everyone's case is different but this just bewilders me and want to try and understand more.  Would Dr. Smith be the best resource to reach out to as far as asking further questions? 

 

Thank you!

 

Jaime

[Cheryl Biermann]

Dr. Smith is definitely the best resource, or someone in his office. Many of our kiddos have multiple mutations, Nathan has MCP and Factor H Related Gene Mutation. Bill also has the MCP as well as Annalise, our three year old. What we found out through Dr. Smith and our nephrologists is that mutations occur in different loations on the gene. The mutation which Annalise and Bill have has not been know to cause aHUS although MCP is a major cause of the disease. Therefore, when we finally transplant Nathan, just to be on the safe side, no one from Bill's side of the family can donate a kidney.

I'm not sure so much about exactly where on the other genes mutations may be safe, just MCP. It may be this is why some of your family members have had to battle the disease and some of you are perfectly fine. That would be my assumption. For a far more precise explanation, by all means, go to the doctors!

Cheryl