Topics

hyperechogenic bowel
I am 22 weeks pregnant with my second child and during the ultrasound a hyperechogenic bowel was detected with no other indication of a chromosome anomaly. I am 33 years old and the chance for a down syndrome is 1:2500. I was tested for 90% of CF mutations and I am waiting for the results. If I am negative, should my husband get tested? Would you recommend some other embryonic dna blood test or amniocentesis for the chromosome deformities?
06.01.2015
Possibilty for CF
I am 32 years old, father of 2 children, and the last 5 years I suffer from relapsing respiratory infections. As a kid I suffered from bronchiolitis/otitis and twice from pneumonia. At the age of 15 months I did a sweat test twice at the CF centre at “Aghia Sofia” Hospital and the values were 20mmol/L. The diagnosis was allergic asthma. At the age of 7 all the symptoms and the infections stopped till I was 28, when it all started again. Currently I am under treatment for asthma (Beclometason + formoterol inhalations twice a day and montelukast, once every evening). The results of my last spirometry were FEV1 90%, PEF 115%, MEF 25% FVC47%, MEF50% FVC 80%. I have very thick mucus and secretions and an allergy to acaria (house dust mites). What are the chances for CF? Need I do any further testing to exclude the possibility of the disease? I am on medication for the last five years. Is there a solution for my problems? Both my children were normally conceived when I was 20 and 21 years old. I have doubts about the sweat test and I was thinking of having a full genetic test. Do I need to pursue the issue or should I stop investigating?
05.01.2015
10-year-old child with CF
My son has been attending swimming lessons for 5 years now. He is tired of it now and I cannot force him to go on. He prefers soccer. Would you recommend such a change?
03.01.2015
3 MRGN!!
Hello dear expert team, I am suffering from CF and in my sputum, a 3 MRGN (multi-resistant gram-negative germ against 3 antibiotic classes) germ has been found. What does this mean now for me and can the germ disappear again and what do I have to pay attention to and should this be treated if I am doing rather well, oxygen values o.k. only slightly phlegmy. Should I do an i.v. therapy and can I go to rehabilitation with this germ? Many thanks
03.01.2015
Kalydeco® for children
Dear expert team, is there any concrete information about the time of licensing of Kalydeco® for children from 2-5 years? How successful were the studies? My daughter has G551D, can the health insurance in spite of this refuse to pay the costs? Are there any reasons that speak against Kalydeco® in spite of a suitable mutation? Many thanks in adavance
03.01.2015
Probiotics in case of long term antibiotic therapy
Hello, my daughter (6-years-old, CF) gets for some years a long term antibiotic treatment. She had often diarrhea and abdominal pain, now she gets for nearly one year LGG capsules and the problems have been gotten better a lot. The health insurance, however, does not want to cover the costs for the past and the future, as the preparations are dietary supplements. She is not taking the capsules for one week now anymore and she starts again having diarrhea and stomach ache; can I assume, that the capsules did indeed help that much? Or do you think she has rather an infection? Is there any data, that I could present the health insurance, that proof the effectiveness of the probiotics? How can I convince the health insurance from covering the costs? Many thanks, Best regards, V.M.
03.01.2015
cf
Dear ladies and gentlemen, At the heel prick of my son, they discovered a CF gene and in addition an increased value of something. We had to do a sweat test. My son was 3 weeks old at that time. Is this reliable? I read on the internet that it is reliable from 4 to 6 weeks. They also took a biopsy from his rectum. Nothing was found. The conclusion is that he is a carrier. What does this mean for him? Me and my husband are being tested now.
22.12.2014
Gene mutation 2896insAG
Hello, I have a question, namely my friend has the mutation 2896insAG and we do not really know what to do with this mutation. Is this a stop mutation? Do stop mutations always end with X? If yes, the first question is already answered. Can you tell me something about this mutation? The other is dF508. Many thanks and with best regards, V.
22.12.2014
Cataract
Hello, I am 50 years old and I have to undergo an operation of the eyes on both sides. What do I have to take into account, concerning CF, e.g. antibiotics?
22.12.2014
Fibrosing colonopathy
Dear expert team, I would like to know, if there are any differences between preparations concerning the fibrosing colonopathy. Before I used to have Kreon®, however had to switch to Pangrol® due to the costs. Is there probably a stronger tendency to fibrosing colonopathy when taking Pangrol®? Many thanks for your answer.
22.12.2014
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