- Nasal transepithelial potential difference (NTPD or NPD) testing can be used to assess the function of the cystic fibrosis gene product, a chloride channel called cystic fibrosis transmembrane conductance regulator (CFTR). Certain measurements are characteristic of CF.
- Clinical genetic testing for CF looks for mutations in the CFTR gene that cause the condition.
Furthermore, negative tests of the partner without a family history and/or more extensive cystic fibrosis transmembrane conductance regulator (CFTR) gene testing also increases the likelihood that a negative report is truly negative. When a newborn patient with zero or one detected CFTR mutation has an inconclusive sweat test result, the sweat test should be repeated before ordering additional often unnecessary CFTR gene sequencing.
Pipeline of Novel Drug Candidates
Novel oral programs targeting protein defects that cause cystic fibrosis (CF) are advancing
In March, Vertex reported the first proof-of-concept data from Part 1 of a Phase 2a trial of VX-770, an investigational Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) potentiator compound for the treatment of CF.
it is a progressive disease, although in some individuals, it progresses much slower. The thing with CF is that there are many mutations of the CFTR gene, some are labeled severe mutations and some aren't as severe. Your sister probably has a milder mutation that produced less severe symptoms. I too have CF, and was diagnosed at 33, I am now 36...in hindsight I had problems with my lungs as a child, even more so when I hit my 20's with many infections -pneumonia and bronchitis.
Chickaboom,
- I am only on insulin no medication. I was put on Glibenclamide by my doctor which I took for a day but it had no effect on reducing my blood sugars. Thats when my diabetes health team put me on insulin. I questioned my diabetes consultant (the most senior level physician) on medication and he said that as I was neither insulin resistant nor over-weight there wass no medication that was appropriate.
- I am both mentally as well as physically exhausted.
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