Want to hear from pancreatic sufficient cfers.
- Thread starter Asmith62
- Start date
stephen
Super Moderator
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-mutations/the-six-classes-of-cftr-defects/
https://www.thelancet.com/journals/lanres/article/PIIS2213-2600(16)30188-6/fulltext
https://www.researchgate.net/figure...ns-into-six-functional-classes_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.
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-mutations/the-six-classes-of-cftr-defects/
https://www.thelancet.com/journals/lanres/article/PIIS2213-2600(16)30188-6/fulltext
https://www.researchgate.net/figure...ns-into-six-functional-classes_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.
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!
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
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
My son is 3 with the df508 mutation and a class 1 mutation (2184insA). I know there aren’t many people who are sufficient, but I was looking to see if there was anyone I could possibly connect with that had a child who is also ps with a class 1 mutation and the df508 mutation. Besides an elevated sweat chloride, my son has never had any other symptoms. He’s never had cf bacteria either.
He’s also pancreatic sufficient. Over 500
Do you have a class 1 mutation well? Are you or were you pancreatic sufficient?
My son has cf and has 2184insA/df508. He is 3 now and hasn’t had any symptoms except an elevated sweat chloride. He’s still pancreatic sufficient. How is your child doing?
My son is 26 he is Delta 508 and 2184insA My son was not diagnosed until he was 9 years old until that time he was small in stature and underweight and had several infections treated with antibiotics. He started taking enzymes immediately and has ever since. He was going down hill PFT wise and weight he weight 136 before the the summer until he went on the triple combo study almost a year ago. He is now 5 foot 10(He took growth hormone shots from age 12-15) and now weights 164. His PFT'S have gone up tremendously the nurse tells us. He is still in the study so we do not know what they are except up tremendously. My son works full time at the UFC in Las Vegas just got married doing wonderful. Thank God for Vertex