Guest guest Posted November 11, 2003 Report Share Posted November 11, 2003 I have been curious as to what is considered mild CF and how, other than clinically it could be determined if a case is mild or severe. I understand now that the only way is clinically or just how intense the symptoms are compared with other cases. The genotype reveals exactly what the particular malfunction of CFTR is but it doesn't spell out severity because other genes, known as modifiers make the same mutations produce different results in different people. I asked one of the nurses on our team if the course of CF all boiled down to the level of CFTR function and she said yes. That may sound like a dumb question but I was sort of thinking that the level of CFTR function was rather consistent with each genotype and the modifier genes made the body able to withstand the lack of chloride transport better in some than in others. Actually she said the modifiers directly affected the level of CFTR function and that was the true bottom line concerning severity of CF. If the CFTR function is very low preventing most or all chloride from escaping the cell then this translates into a harder case than when there is more activity there and so on. The more CFTR is working, the better off they are. I guess that it also works to a different degree in different parts of the body, making some have less or more problems in the pancreas or lungs. What good it does me to know that I don't know because she also said they can't test the cells to check the level of CFTR working. And even if they could, they couldn't do a lot about it. At least not right now anyway. It just helped me to understand a little better and I thought I'd share it. If I got something wrong please correct me. Joe Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 11, 2003 Report Share Posted November 11, 2003 Joe, It all boils down to penetration!. n and can explain that to you better than I can. But, I know several people that are homocygous delta 508 and symptoms are either very mild or non- existants. Hope that helps > I have been curious as to what is considered mild CF and how, other > than clinically it could be determined if a case is mild or severe. > I understand now that the only way is clinically or just how intense > the symptoms are compared with other cases. The genotype reveals > exactly what the particular malfunction of CFTR is but it doesn't > spell out severity because other genes, known as modifiers make the > same mutations produce different results in different people. > > I asked one of the nurses on our team if the course of CF all boiled > down to the level of CFTR function and she said yes. That may sound > like a dumb question but I was sort of thinking that the level of > CFTR function was rather consistent with each genotype and the > modifier genes made the body able to withstand the lack of chloride > transport better in some than in others. Actually she said the > modifiers directly affected the level of CFTR function and that was > the true bottom line concerning severity of CF. If the CFTR function > is very low preventing most or all chloride from escaping the cell > then this translates into a harder case than when there is more > activity there and so on. The more CFTR is working, the better off > they are. I guess that it also works to a different degree in > different parts of the body, making some have less or more problems > in the pancreas or lungs. > > What good it does me to know that I don't know because she also said > they can't test the cells to check the level of CFTR working. And > even if they could, they couldn't do a lot about it. At least not > right now anyway. It just helped me to understand a little better > and I thought I'd share it. If I got something wrong please correct > me. > > Joe Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 12, 2003 Report Share Posted November 12, 2003 , I have two cf genes--full, and one fragment, and despite the longevity known in my family, even amongst those who have cystic fibrosis, my physicians would never descripte my symptoms as either mild or non-nexistant, though this can occur, and I realise that even though you mentioned my name in the context of explanation, I did not want the new members to think that I had " a touch of cf! " I realise that you were not suggesting anything about me, but wanted to make sure that the new members did not get it wrong about me. Gotta keep my cf identity in tact, here! Love to you and yours, and thank you for even including me in the same category as ! Wow! Love to all at cfparents, n Rojas,wcf, who in attempting to clear up a point, has doubtless murked it to death! Re: CFTR function/Mild CF > Joe, > > It all boils down to penetration!. n and can explain > that to you better than I can. But, I know several people that are > homocygous delta 508 and symptoms are either very mild or non- > existants. > Hope that helps > > > > > > > > > > > > > > > > > > > > > > I have been curious as to what is considered mild CF and how, other > > than clinically it could be determined if a case is mild or > severe. > > I understand now that the only way is clinically or just how > intense > > the symptoms are compared with other cases. The genotype reveals > > exactly what the particular malfunction of CFTR is but it doesn't > > spell out severity because other genes, known as modifiers make the > > same mutations produce different results in different people. > > > > I asked one of the nurses on our team if the course of CF all > boiled > > down to the level of CFTR function and she said yes. That may > sound > > like a dumb question but I was sort of thinking that the level of > > CFTR function was rather consistent with each genotype and the > > modifier genes made the body able to withstand the lack of chloride > > transport better in some than in others. Actually she said the > > modifiers directly affected the level of CFTR function and that was > > the true bottom line concerning severity of CF. If the CFTR > function > > is very low preventing most or all chloride from escaping the cell > > then this translates into a harder case than when there is more > > activity there and so on. The more CFTR is working, the better off > > they are. I guess that it also works to a different degree in > > different parts of the body, making some have less or more problems > > in the pancreas or lungs. > > > > What good it does me to know that I don't know because she also > said > > they can't test the cells to check the level of CFTR working. And > > even if they could, they couldn't do a lot about it. At least not > > right now anyway. It just helped me to understand a little better > > and I thought I'd share it. If I got something wrong please > correct > > me. > > > > Joe > > > > ------------------------------------------- > The opinions and information exchanged on this list should IN NO WAY > be construed as medical advice. > > PLEASE CONSULT YOUR PHYSICIAN BEFORE CHANGING ANY MEDICATIONS OR TREATMENTS. > > ------------------------------------ > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 12, 2003 Report Share Posted November 12, 2003 Geeeeeeeee, I hate this machine, I lost this post after writing it twice!!. Here we go again! My dear n(this is my third apology), I apologize if it sounded as if you have a mild form of CF. That was not my intention. Remember when we had this talk and it was said that there is no such thing as a mild case of cf that it all depends on the gene penetration. This is when I mentioned your name and 's name because you can explain the gene penetration better than I can. Hence, the example of some CF patients that I know that are double delta 508 and are asimtomatic or with very little symtoms. I do know that you only have one of the delta 508. Where as in some people double delta 508 presents itself very severe. So, again my point, and my apologies, it mostly lies on the gene penetration. Am I making sense? Again so sorry, > > > I have been curious as to what is considered mild CF and how, other > > > than clinically it could be determined if a case is mild or > > severe. > > > I understand now that the only way is clinically or just how > > intense > > > the symptoms are compared with other cases. The genotype reveals > > > exactly what the particular malfunction of CFTR is but it doesn't > > > spell out severity because other genes, known as modifiers make the > > > same mutations produce different results in different people. > > > > > > I asked one of the nurses on our team if the course of CF all > > boiled > > > down to the level of CFTR function and she said yes. That may > > sound > > > like a dumb question but I was sort of thinking that the level of > > > CFTR function was rather consistent with each genotype and the > > > modifier genes made the body able to withstand the lack of chloride > > > transport better in some than in others. Actually she said the > > > modifiers directly affected the level of CFTR function and that was > > > the true bottom line concerning severity of CF. If the CFTR > > function > > > is very low preventing most or all chloride from escaping the cell > > > then this translates into a harder case than when there is more > > > activity there and so on. The more CFTR is working, the better off > > > they are. I guess that it also works to a different degree in > > > different parts of the body, making some have less or more problems > > > in the pancreas or lungs. > > > > > > What good it does me to know that I don't know because she also > > said > > > they can't test the cells to check the level of CFTR working. And > > > even if they could, they couldn't do a lot about it. At least not > > > right now anyway. It just helped me to understand a little better > > > and I thought I'd share it. If I got something wrong please > > correct > > > me. > > > > > > Joe > > > > > > > > ------------------------------------------- > > The opinions and information exchanged on this list should IN NO WAY > > be construed as medical advice. > > > > PLEASE CONSULT YOUR PHYSICIAN BEFORE CHANGING ANY MEDICATIONS OR > TREATMENTS. > > > > ------------------------------------ > > > > > > Quote Link to comment Share on other sites More sharing options...
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