Topics

Gene mutations DELf 508 and 3300_3014del
Dear Experts, I´ve already asked in March but my question has not been answered (up to now), so I try it again: I would like to know, if there is any information about the Mutations-combination: delta f 508 c.1521_1523 del and 3300_3014del, heterozygote? What kind of Mutation is the 3300_3014del- Mutation? I couldn´t find any more precise information about these kind of CF-Mutationscouple. Thanks in avdance
03.06.2013
G542X /5t and PA
My 7 year old son was diagnosed with carrying g542x and 5t. This diagnosis was made when he was 6 years old after experiencing syringeal akrokeratoderma in his hands (exessive wrinkling of the palms). He has a sweat test of 39 and then 40. The wrinkling of the hands only lasted for about 3 months. My son also has inserted ear tubes at the age of 2 and 4 due to fluid build up. We were told that our son would experience sinus infection and the possibility of the absence of his vas deference and not to worry. However the CF clinic wanted to observe him every 6 months. Recently my son had a wet cough which lasted for 5 weeks. He was seen by his pediatrician and confirmed that everything was ok, just had a regular cold. During our recent CF check up, my son was diagnosed with pneumonia for the 1st time and was given amoxicillin (80) for ten days and the cough has disappeared. However during the CF check up they performed a throat swab culture and the results came out positive for PA (Pseudmonas aeruginosa), it was negative 6 months ago. The doctor was surprised as he said that PA only appears in classic CF patients and asked us to repeat the test this week as well as a complete genetic panelling for the other 1500 CF mutations. I did not know anything about PA until I came across this wonderful educational web site and I thank you for that. However it has gotten me extremely worried and started to disinfect my home with chloride. Is it possible that we will find another CF gene? I will be getting the results in 2 months. Also I have read that if PA is cought early it can be treated with a success rate of 80 percent. What is the definition of early? My son has level 1. What is the best treatment to eradicate PA? And what can I do to ensure that he does not get it again? From the bottom of my heart I thank you for taking the time to answer my questions. Worried mom M.
29.05.2013
turf
Hello, I read in one of your answers that children with cystic fibrosis could enjoy green spaces, but can you leave a baby with cystic fibrosis crawling in the grass? Or be sitting in the grass (he touches the grass and put his hands in the mouth)? ... The erath may also be a tank of Pseudomonas aeruginosa? Thank you
29.05.2013
Transplantation and horse-riding
Can one pursue horse-riding after lung transplantation ?
29.05.2013
Poultry keeping?
Hello, We have two children, 4 and 6 years old. Our little daughter has CF. We are thinking about buying chickens. Would you advise against it because of MRSA or other pathogens? She will, of course, not clean the chicken house. Thank you.
29.05.2013
CF and swiming pool
Are swimming pools safe for children with CF? What do we need to know?
29.05.2013
cystic fibrosis
Essence of question: Why do therapeutic approches differ so much: in some countries they use more autogenic drainage (Scandinavia) in some more "the vest" (USA, Lithuania)?
29.05.2013
CF 2013
Essence of question: is there any information of new medicines improving the underlying defect in CF?
27.05.2013
Achromobacter xylosoxidans
Dear expert team, are there any new insights on this germ or on the treatment possibilities or is it still Cayston® (aztreonam) that is used in the treatment of this germ? Why is however then this germ not mentioned in the description of the drug, but only Pseudmonas? At what time would you recommend to try a treatment at all? I mean, only if the lung function declines markedly or already before this? And my last question - is it true that this germ is more in adult lungs, i.e. where the illness is at a more progredient stage? This is namely not the case in my daughter, at least not until now, in spite of this, since about 2 years she is colonized with it again and again! Many thanks for your efforts.
27.05.2013
Impossible to make her eat
Hello, the girl of my brother who is 1 year and 1 month has cystic fibrosis, diagnosed at one month of age, and since this time she follows the necessary treatment, but unfortunately for at least two months she refuses to eat . The doctors have performed all the necessary examinations, but they found nothing. I think it could be a psychological block, but doctors don’t want to hear about this. I ask you for help to find a possible solution, but also in order to help my brother and his little family. Currently the child is fed by a tube during the night, but as she refuses to eat they start to use tube at lunch, too. Thank you for your advice Regards M.
15.05.2013
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