Checking for CF

Question

My daughter is 15 years old. She was checked for CF at the age of 11 after chronic constipation and chronic bronchitis. The bronchoscopy revealed generalised and local inflammation. After a treatment with antibiotics the CT was normal.
We did 2 sweat tests with results 44 and 55. The genetic testing was negative for the father and positive for the mother (mutation G542X/genotype G542X/N).
The NO check was normal, but with the lowest normal values. There is a suspicion of multicystic ovaries.
Do you think we need to proceed with other tests for CF at a specialized center?

Answer

Dear friend
Your teenage daughter (15 years old) has permanent respiratory symptoms (bronchitis). The CF was diagnosed normal, but the bronchoscopy and laboratory findings are indicative of inflammation.
There are two borderline sweat tests (44 & 55, assumed the test was performed to a standardized procedure in an experienced center) and the genetic testing revealed that your daughter has a CF mutation (G542X), while the NO is low.
Your daughter needs to visit a CF center, in order to have another sweat test with the method of iontophoresis of pilocarpine and to complete her testing with the checking of the pancreatic function, a pharyngeal culture and a reevaluation of the CT.
Yours friendly,
Dr. Stavros Doudounakis

15.11.2012