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Thread: Want to hear from pancreatic sufficient cfers.

  1. #1
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    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
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    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
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    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
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    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.

  6. #6
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    Quote Originally Posted by Asmith62 View Post
    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?
    I have one nonsense mutation that produces no protein and ends with an X.

    The other one is extremely rare and I found out that because of it's structure the mutation was thought to be a class one splicing mutation without any functioning protein and is probably a class V mutation in stead of a class 1. I and 73% of the 15 patients in the data base are pancreatic sufficient. I am 46 years and still PS. My lung function has declined a bit slower than for my CF friends. Off course when they finally tested my mutation in the lab it turns out it has residual function. I must have had symptoms as a child because a doctor kept me on her radar for years before doing a sweat test on me at the age of 5 and off course it was well within the range of CF. But my parents can't remember what was actually causing the doc to be suspicious.

    So, yes, some rare mutations probably get wrongly categorised as class one, though they could have residual function and be class V or IV.

    You can have a look at www.cftr2.org if your mutations are in there. If not you can e-mail them and ask if they know more!

  7. #7
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    Feb 2019
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    Hi
    I am from MOROCCO. My little baby is class I/class II mutations and she is PS till now.
    She is 9 months.
    Diagnosed at her birth thanks to Guthrie test. She is F508delta/2185insA.
    Early colonization with PSA during her hospitalization (preterm baby) but She gets antibiotics-inhaled ones and her last analysis are good - no more PSA.
    She is now in Intensive Cares because of a severe bronchiolitis RSV. She is still needing oxygen but she is improving.
    Please tell me your symptoms if you have the same mutations

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