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Topics
- 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
- Acinetobacter calceticus baumannii Complex
- Hello, Is there a need/obligation for treatment if very low occurrence of the above mentioned bacterium was tested? Are there certain precautions that have to be taken respective other CF persons or physiotherapists? The symptom is mild cough. Inhalation with Tobramycin is done. Is that enough or should an IV be made to maintain the current good state of health? Many thanks.
- 12.06.2015
- Periactine
- Hello, Could you, please, talk about the use of Périactine to increase appetite and thus weight. I know that some patients use it but our CF center doesn't seem to know it. I wondered whether studies have been conducted on this medicine or if it's rather used in a isolated way. Thank you very much in advance for your answer. Sincerely.
- 07.06.2015
- Liver and cytolysis
- Hello I am worried for my 1 year old CF baby: according to the last checkup, he has a "mild cytolysis" of the liver, he takes Ursofalk, do you think it can progress to liver cirrhosis? Thank you.
- 07.06.2015
- CF patient who doesn't want to have a treatment
- Hello I just want to know if there is a study for the follow-up of CF patients who don’t follow any treatment, even when proposed?
- 07.06.2015
- Phenotype associated to Genotype F508del / 3849+10 kbCT
- Hello I am 5 months pregnant. My husband has got the F508del gene, and I'm carrying the 3849 + 10 kb CT. With 1/4 chance to transmit CF, I would like to know the clinical features. Best Regards
- 07.06.2015
- Mutation G149R
- Hello, I would like to know what is the class of the G149R mutation? Thank you for your answer
- 07.06.2015
