Topics

CF even without cough?
I am female, 27 years old, I have problems with breathing since childhood and physical exhaustion, infections. For about one year, I have food intolerances, for 5 months I am short of breath, I am vomiting viscous mucus, have mucous stools, GI-problems (even for a longer time), suddenly ...
16.07.2016
Sweat test and elastase activity and genetic is negative
Hello, I have a daughter who is 6 years old and another girl who is 4 years old. The 6-year-old girl has chronic constipation and two hernias (one in the inguinal area and the other in the abdomen). She is growing slowly. The little girl of 4 years had some rectal prolapses. Her sweat test ...
20.06.2016
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
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