Update on Anna and CD46

[Svetlana Finley]

Hello everyon!!!

It's been awile since i updated on Anna. She is been doing well and enjoying gymnastics. Today we had our visit with our doctor, Annas labs continue stay where we like them too. They took her off blood pressure medication one medication less ;-) We also had disscation on some testing they did in the begining this year so she is positive for CD46 and she just below range for Factor B normal for it was 20-51 and hers is 19, so our doctor dosen't know really if that is shows she does has Factor B or not it's just one point low.

I have a question if you have Factor B what are the numbers and what should we do with this result or should we re do?

Thanks

[Grace]

I so glad to hear Anna is doing well!

There is a new paper just out (I put a link in the research forum) that has a table on protein levels for different mutations. Factor B is normal or decreased in most mutations (including CFB itself). The protein levels are not as conclusive as genetic sequencing, though there are many unanswered questions there as well. 

I find it interesting that for many of the normal ranges of complement factors, the lower limit is less than half of the upper limit. I'm inclined to believe that the lower limit is indeed low, but that's my own speculation. I don't know how much you'd gain by repeating the test, but that's for you and your doctors to decide. E.g., if it would convince insurance to pay for something Anna needs, then good.

 

Factor B is something of the "new kid on the block". It's been known for a couple years, but it is also thought to be mutated in less than 5% of aHUS cases. So I think there is less information out there.

[Cheryl Biermann]

Good luck, with all the help on our site, perhaps someone will see this sooner or later and give you some  good facts, or, the doctors on the list on the home page might have some answers too.