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Topics
- 6% NaCl (MucoClear®/Hypertonic Saline)
- Hello, Is it possible to overdose when inhaling 6% NaCl or can I inhale as much as I want? Sometimes I inhale 20ml of 6% NaCl per day. Best regards and thank you for answering.
- 12.06.2015
- Staying abroad in Singapore
- Is there medical CF care in Singapore in case of emergency (staying for 3 months)?
- 12.06.2015
- Genetic therapy heterozygous DF508
- Hello, how far is research concerning DF508-heterozygous patients? Are there first study results, when can one expect a licensing in case of promising results? Thanks!
- 12.06.2015
- Transplantation
- Hello, if a CF patient undergoes lung transplantation, will the new lung also suffer from more and more mucus? Therefore, will the CF damange the new lung the same way as the former lung? Can one transplant the pancreas, so that the new organ secretes enzymes in the gut? Thus, could one cure with that a CF pancreatic insufficiency? What does immunosuppression after a transplantation mean concretely for the transplant recipient, concerning infections, quality of life? Many thanks!
- 12.06.2015
- Susceptibility for Pseudomonas
- Dear experts, is it true that some CF patients are more susceptible than others? Is there a correlation with susceptibility for PSA and certain genes? Our 2-year-old son with CF has already had two times Pseudomonas aeruginosa in the throat swab. And that, even if we are very cautious and stick to all the hygiene rules. It is frustrating, if one does so much in order to avoid the Pseudomonas and it can be found in spite of this! If one would know, that there would be a genetic predisposition for Pseudomonas colonization, so that one could not avoid it via hygiene rules anyhow, we could relax our efforts probably a bit and could our son let play like the other children in puddles, swimming pools, sand boxes and baby pools….? Many thanks for your opinion.
- 12.06.2015
- Μutation combined with polymorphism
- I am 14 weeks pregnant and I have a 4 year old son. During the genetic testing I was examined for 90% of the CF mutations and I was found to carry: c.1584+12T>C (rs193922502), along with the non pathological polymorphisms p.V470M (rs213950,c.1408G>A). My husband was detected to carry the c.1522_1524delTTT (p.Phe508del), rs121909001. The examined sample carried the genotype Τ9/Τ7 & TG10/TG11 in regard to the gene regions T & TG. What are the chances that the fetus will have CF in a severe or mild type, or present other problems (it is male). What about my son? (He is perfectly healthy, has never received antibiotics, but is not tested for CF). Thank you, A.
- 12.06.2015
- polymporphisms and mutations
- I would like to ask what is the difference between a polymorphism and a mutation. Can a polymorphism, or a mutation, cause CF on their own? Can a person have more than 2 polymorphisms or mutations? Thank you!
- 12.06.2015
- Detection of CF at a later age
- Recently, a mother with CF stated that she did not know she had CF before she was pregnant. I was glad for her, but, on the other hand, I got worried. I have a child with CF (pancreatic symptoms) and other children, that have not been tested (the doctor told me to have them tested for carrying a CF mutation when they get married). They do not look as if they have something. However, a) is it possible to get to the age of 38 without having any symptoms? b) How could an overweight person, over the age of 20, detect possible CF symptoms? c) If CF has not been detected by the age of 20, what about any possible lesions, e.g. would not a 20 year old person have contracted pseudomonas? Thank you!
- 12.06.2015
- Normal sweat test
- I gave birth to twins, one of which was tested for CF with doubtful results. Afterwards we did a sweat test with normal result (32). The doctor advised us to repeat the sweat test before the age of six months. In the amniocentesis I did everything was normal. My husband was tested before we did the IVF with negative results. The baby grows normally, weighs already 8 kgrs and looks very healthy? Is there any reason to worry?
- 12.06.2015
- Heterozygote 621+1G>T and F508del
- My daughter carries the mutations 621+1G>T and F508del. How serious is her condition?
- 12.06.2015








