Topics

CF???
Hello, I am worried abou my 15-months-old daughter. She is coughing since the middle of January. Sometimes with fever and sometimes without. Nothing seems to help (she is inhaling cortisone…ambroxol…cough syrups…)I have been with her to the pediatrician…in hospital…general ...
20.06.2016
White margin of sweat in case of sweating
Hello, I have the following question: It strikes to me, that my son (16 months old) has a white margin of sweat from sweating in case he had his dark hood on while sleeping for a long time in the buggy, just in the shape of his head. The margin also tastes salty. It did not strike to me until ...
20.06.2016
CF-symptoms after long-term exposition to toner particulates at work
After I suffer for 2 years from increased mucus production in the throat, I have for the last 3 months persistent cough and asthma-like symptoms. X-ray, CT of the lungs/bronchi, diverse allergy tests, exercise stress test and a gastroscopy did not bring a pathological finding. Eating increases the ...
04.06.2016
Mild CF
Hello My daughter, 2 months old, has a positive genetic test with F508del and 5T abnormalities but sweat test has been negative; she has just been diagnosed as a mild form of cystic fibrosis... She will be followed in prevention every 6 months throughout her life ... Extremely rare cases ...
11.05.2016
French Registry
Hello, To a question I asked you about the mutation 3849 + 10 kb and neonatal screening you answered that 80 patients were carriers of this mutation and only 17 of them were detected by neonatal test. Were the other 63 patients false negatives because they were pancreatic sufficient? Thank you ...
11.05.2016
Guthrie test in pancreatic sufficient people
Hello, will pancreatic sufficient babies be detected with the Guthrie test if they have cystic fibrosis? Cordially
18.04.2016
Neonatal Screening test
Hello, could you tell me if babies with at least one mutation 3849 + 10 Kb> C and another mutation have been diagnosed in Guthrie? Cordially
18.04.2016
Screening test in pancreatic sufficient people
Good evening, How can mild cystic fibrosis forms be detected through the neonatal test even though those patients do not have pancreatic insufficiency? I read in an article that patients with pancreatic sufficiency are not detected in the Guthrie test but several times I read the opposite. Has the ...
18.04.2016
CF Screening Test
Hello, Currently pregnant 2 months and a half, I have a niece who has cystic fibrosis (my sister’s daughter) and my spouse has a cousin, a boy of his mother's sister, who is CF. I wonder if there is a chance we be carriers?
25.04.2016
Does an ICM (intestinal current measurement) make sense?
Dear ladies and gentlemen, there is an adolescent patient, who has had a sweat test result in the borderline area at a CF center and in a second experienced CF center the sweat test results were as well in the borderline area (chloride concentration in the sweat with pilocarpine ionotophoresis) ...
16.04.2016
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