Topics

Genetic counselling - Parents carriers of cystic fibrosis mutations
Good morning, I am in the 1st trimester of my second pregnancy. Both my husband and I carry cystic fibrosis mutations. (Husband in 95% resolution carries the change c.476T>C, while I carry D614G). Our first child did not inherit any of these (as we knew after trophoblast testing & karyotyping) and is perfectly healthy. In this pregnancy, recommendation is to receive trophoblast testing again, which I will certainly do. My question is, what is the genetic counseling if the fetus is at 25% and inherits both changes? As far as we were informed in the 1st pregnancy, there is no recorded case in the literature of the appearance of a typical form of the disease with these combinations. Thank you, Christine
07.10.2024
mutation c.3154T>G (p.Phe1052Val)
Good morning, in the prenatal checkup we did the cystic fibrosis carrier testing and me and my husband (testing at 100% ) were both heterozygous carriers for the variant c.3154T>G (p.Phe1052Val, rs150212784). If the child is homozygous for c.3154T>G (p.Phe1052Val, rs150212784) what problems might he have? Thank you very much in advance
07.10.2024
Chance of CF in the fetus
Hello, in the prenatal test for me, the mutation c.2620-15C>G in the CFTR gene was found, which is characterized as a possibly non-pathogenic polymorphism, and for my husband, c.3718-24G>A was found, which is characterized as possibly non-pathogenic/unspecified of clinical significance. What is the probability that the fetus will show both polymorphisms and what is the probability that it will suffer from CF.
22.09.2024
Effect of Trikafta
Dear experts, our son is 1 year old and has the mutations del508 and W1218X. We have a question on the effect of modulator therapy. He will get Kaftrio (Trikafta) due to his one del508 mutation. Is there any knowledge about the effect of Kaftrio (Trikafta) in case of this mutation combination? We have read, that modulators are not effective in nonsense (stop-) mutations, but they are effective in del508. Is the del508 mutation, that is corrected by modulators overtaking the whole functioning? Or how could one imagine it works? Many thanks for your answer!
07.11.2023
Recommendations for vaccination in case of lung transplantation
Dear expert team, I have a question about recommendations for Corona vaccination in case of transplantation. Transplanted patients are treated with immunosuppressive drugs, in oder to avoid organ rejection. After vaccination, there should be a reaction of the immune system, however I think this could only be a slight reaction. Until now, the physicians were not able to explain, why a patient should be vaccinated if the effectiveness is only very small. What is even more dramatic in my example is, that the patient is threaten not to be treated if he refuses the vaccination. This is how it happened. In general, we are not against vaccinations, however it has to be taken into account, if this is the best in case of a grade 4 kidney failure. Healthy people are free to decide, even if they have only advantages in case of vaccination. Could you please help me further in this situation?
18.07.2022
EMS training, increased CK value and other side effects
Dear expert team, due to back ache, I think about beginning an EMS-Training (=electro-myo-stimuation). I am female, 50 years old, suffer from CF, my FEV1 value is 65% and I take Kaftrio. During the physiotherapist was taking my story (I told freely all details of my illness), she got more and more insecure, if such a training is allowed in my case. She mentioned an increase of the CK (Creatinkinase) value due to the training and told me to present at a doctor for having this checked. What do you think? Are there more advantages or disadvantages concering such a training? I do 15km per bike each day and thought, the EMS-training would be a good complementation. However, I am not sure anymore. Many thanks for your answer.
18.07.2022
Research Pseudomonas
Dear expert team, our daughter (10 J) is positive for Pseudomonas. The usual therapies have been initiated. I came across an article, that reports about a vaccination against Pseudomonas: https://www.spektrum.de/news/neuer-impfstoff-gegen-pseudomonas-aeruginosa/776769 Is that serious and how was the development in the course of time? Many thanks
05.07.2021
Vaccination against Pseudomonas
Dear ladies and gentlemen, are there any vaccinations available against Pseudomonas aeruginosa in CF patients?
05.07.2021
Timeframe for influencing the biological processes in the lung
Dear Ecorn-CF team, in this article https://idw-online.de/de/news762933 it says: "Also for the treatment of CF the study gives an important hint: while treatment of older CF-patients is only possible to a small extent, there is obviously a timeframe in smaller children, in order to influence the biological processes in the lungs favourably in order to improve the further course of the illness." As we have a 2-year-old child with CF, I would like to know how this process can be influenced in a positive way. Many thanks and best regards,
05.07.2021
Rapid-Test cross-reactions
Dear Expert-team, in schools Rapid-Testing with Antigen-Tests for Sars-CoV2 is startings. Due to cross-reactions there can be false positive results. Cross-reactions with bacteria and viruses are listed, that are frequently found in CF. Do CF patients have to expect false positive test results? Are there tests that are more suitable, so that one can find a test suitable for the individual colonizations with germs? Many thanks,
05.07.2021
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