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Thread: Want to hear from pancreatic sufficient cfers.

  1. #1
    Junior Member
    Join Date
    Mar 2017
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    3

    Want to hear from pancreatic sufficient cfers.

    I would love to hear from pancreatic sufficient people with cf or those who have a pancreatic sufficient child with cf. Is anyone else pancreatic sufficient with a class 1 and 2 mutation?

  2. #2
    Junior Member
    Join Date
    Jul 2015
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    13
    I am pancreatic sufficient. Iím not sure what class 1/2 mutation is though

    Edited to add: ok, I am class II mutation and class IV
    Last edited by Krysm3; 12-26-2018 at 09:09 PM.

  3. #3
    I am pancreatic sufficient, I am 72 years old not diagnosed until I was 64. DF508 and R117H

  4. #4
    Super Moderator
    Join Date
    Aug 2016
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    43
    Asmith62,

    It would be surprising to me if many/any people with one Class 1 and one Class 2 mutations are pancreatic sufficient.

    To simplify:
    Class 1 mutations do not produce any CFTR protein.
    Class 2 mutations, create faulty CFTR protein that can't reach the cell wall.

    Mutations of other classes are usually "residual function" mutations where some of the CFTR protein can function. Many of the people with at leas one mutation in these classes are pancreatic sufficient.

    It does surprise me that people who are involved with CF are not interested in determining what class their mutations are. Googling "cf mutation classes" will bring up many sites that have good descriptions of the mutation classes. The site to start with is probably:

    https://www.cftr2.org/

    Here all the CF mutations are listed with descriptions and data on each.

    Some other good sites with simplified class descriptions are:

    http://www.cftr.info/about-cf/cftr-m...-cftr-defects/

    https://www.thelancet.com/journals/l...188-6/fulltext

    https://www.researchgate.net/figure/...fig5_307607531

    Note: R117H referenced above is a Class 4 Residual Function mutation. It's not surprising that someone with one on mutation like this would be diagnosed later in life and be Pancreatic Sufficient. I fall into that category.
    77 Y/O with CF (D1152H and G542X) and Broncheiectesis.
    FEV1 Low 40s%.
    Started Kalydeco March 2014, Switched to Symdeko March 2018. Doing very well!

  5. #5
    Junior Member
    Join Date
    Jul 2015
    Posts
    13
    For me, it wasnít a lack of interest in determining what cf mutations I am. I was diagnosed 4 years ago (and had zero symptoms until 5 yrs ago) and this is the first time Iíve heard that there were mutations. 😉
    Thanks for the links. I find it all very interesting.

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