As I understood it, my 2 yr old son was diagnosed with CFTR and not referenced as "CF". Is there a difference or is he essentially now diagnosed with CF? I was told that he had 3 genes with polymorphisms of CFTR that would all together with his symptoms and testing diagnosis him as this. Anyone out there know anything about this? My pediatrician is out until Wednesday and trying to find some information.
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CFTR diagnosis Vs CF diagnosis
- Thread starter tysmama
- Start date
JustaCFmom
New member
CFTR is the gene/protein. I don't think there is such a thing as a "CFTR diagnosis". Did you do a sweat test?
Sweat test was 55. I believe it was referred to as "CFTR metabolic syndrome" it was diagnosed by a ped pulmonologist.
You will need to see a CF specialist at this point.
CFTR Metabolic Syndrome is a diagnosis given when you have an elevated sweat chloride level and/or other symptoms...BUT only 1 known mutation. Since it takes 2 mutations to technically have CF, if a patient looks like CF, acts like CF, responds like CF but has 1 mutation...then you treat as CF and this is the 'formal' diagnosis.
Once upon a time (ie 10 years ago) that sweat test result would have garnered a likely CF diagnosis, especially if he has any other symptoms. With the advent of genetic testing, it has become the standard for a formal diagnosis.
However, if you have had the testing and they found 3 mutations, then that would normally mean CF. It is possible all 3 mutations where on the same copy of the gene (you have 2 copies, one from each parent) which would point to this diagnosis. However, someone would have to look at the results to know, and honestly at this point you need a CFF accredited center to evaluate and tell you where to go from here.
Lilliansmom
New member
Both of my kids carry the CRMS dx. Both have had borderline sweat tests - as high as 59, but only have 1 mutation. After years of doing nothing, they are now being treated as if they have CF. We are doing CPT, nebs, and waiting on insurance to approve the vest.
M
momofmia
Guest
Hello Tysmama,
My daughter also has 7T/7T and m470v. She is on Pulmozyme and Hypersal since April. She has been sick her whole life, but since starting CF meds she has not been on or needed antibiotics at all. What symptoms does your son have and how old is he?
My daughter also has 7T/7T and m470v. She is on Pulmozyme and Hypersal since April. She has been sick her whole life, but since starting CF meds she has not been on or needed antibiotics at all. What symptoms does your son have and how old is he?
M
momofmia
Guest
Just to add, her pulmonologists said she does not have CF. I begged them for these meds for years, they would not even consider them, so now she is 16 with Bronchiectasis.
My son is 2 1/2. He is said to have CFTR but is treated as CF would. He hasn't had any respiratory issuers in quite a while. He is always congested and draining a lot. His is mostly digestive right now. He started pancreatic enzymes 1 wk ago and Prevacid 2 wks prior. Haven't seen much of a difference so far bowel wise, but has gained a pound. Until about 18 months, he did have his fair share on pneumonias and chronic eat infections/sinus issues.