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Topics
- Genetics
- Hello, if a complete sequencing of the gene had been done 4 to 5 years ago, however the symptoms persist (mucus, colonization, pancreatic insufficieny, normal sweat test), does it make sense to have a new genetic investigation done after these years? Many thanks!
- 07.11.2016
- Sweat test and diagnostic algorithm
- Dear expert team, I have read the legal disclaimer and hope my question is possible. I do not want to get a diagnosis of course, however I am looking for further, additional expert opinions. Our son, 6 years old, is at the moment investigated for CF. This was because I had been on rehabilitation ...
- 07.11.2016
- 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