CF Gene Testing

[Guest guest]

,

The test needed to identify CF gene testing is called a CFTR gene mutation

study.

Identification of the cystic fibrosis gene on the long arm of chromosome 7

in 1989 led to the understanding of its protein product, the cystic fibrosis

transmembrane conductance regulator (CFTR), a cyclic-AMP mediated chloride

channel. Mutations in the CFTR gene lead to chloride channel dysfunction and

impaired ion transport across epithelial cell membranes. In the pancreas, this

results in impairment of bicarbonate and chloride secretion, reduced fluid

flow in pancreatic ducts and protein hyperconcentration.

CFTR gene mutations are present in patients with idiopathic pancreatitis.

Most of these patients had mutations on only one allele and no significant

pulmonary or other characteristic CF findings were present. At this time, most

of

these mild mutations are not included in standard commercially available

panels used for screening for Cystic Fibrosis. Therefore, it is important to

study the complete DNA sequencing of the CFTR gene to look for the more than

1000 known mutations in CFTR. More complete genetic tests are anticipated in

the near future, but at this time, the most comprehensive test available for

commercial use only tests for 86 of the more than 1000 known mutations. When

full DNA sequencing has been performed, up to 60% of patients had at least one

mutation.

Karyn E. , RN

Executive Director, PAI

Indianapolis, Indiana

[Guest guest]

Just a note for myself, I have two matching genes and they are very

strong for CF. I have severe pulmonary problems with many GI issues. I

think the general population interprets this information in the manner

that you have. However, I chat with approximately 500 CF patients across

the country and there are a varied sort of mutations with symptoms

running the gambit of mild to severe. The other issue is that like

myself , pulmonary symptoms were my predominant symptom and then out of

the blue the GI problems started two years ago. Both are heightened at

this time. I am very fortunate to have two universities where I receive

excellent treatment, at WVU, UPMC, in Pittsburgh, and Cleveland at

Rainbow Babies Clinic.

I much respect for those on this group because until I experienced the

CP, I could not understand the implications of this complication. Even

though over the years I have cared for patients with CP as a nurse. The

best to all. And thank you for being so supportive. Deb