Topics

Pancreatic insufficiency
My son was diagnosed with CF 10 years ago. He is now 19 years old and he is doing well, without any major problems. Not long ago he started complaining about belly aches after meals, he has loose stools every morning and once a week morning diarrhea. He is not on pancreatic enzymes, because the doctors told us he does not suffer from pancreatic insufficiency. Recently we did a pancreatic echo and lipase and amylase tests, and all were normal. Is it possible for a person with no pancreatic insufficiency and incidents of pancreatitis to acquire such problems with time?
14.12.2015
Ataluren® and Bramitob®
I have CF and the mutations F508del & L732X. I am 29 years old and I take for many years Bramitob® (Tobramycin for inhalation). Can I take Ataluren®?
14.12.2015
p.Ala120Thr mutation
During the 9th week of my pregnancy I was checked for 89% of the CF mutations in the CFTR gene. The results were positive for the mutation p.Ala120Thr (c.358G>A, rs201958172). After the recommendation of my gynecologist my husband was checked for the same percentage of CF mutations in the CFTR gene. My doctor insisted that there is a 25% chance for the fetus to have CF only if my husband was a carrier of the same mutation as mine. After reading the answers here I realize that any two mutations can cause CF in the fetus. The results of my husband are not ready yet. I would like to ask if my husband tests negative for 89% of the CF mutations, what are the chances to have a baby with CF? If he is a carrier of a CF mutation do we need to have an amniocentesis? Thank you!
14.12.2015
Ataluren
Is the new medication Ataluren appropriate for administration for the mutation G126D?
11.12.2015
Another question on best care possible
I thank you very much for your answer, Dr. Eickmeier. In the meantime I came again to my mind, how one could protect the lung. It is an amiloride solution. I read somewhere about it and that one has to use it within the fist 24 hours of life. Did you ever hear about this? Otherwise we are prepared well for the case of the cases. Thank you.
11.12.2015
Best care possible
Hello dear expert team, after 5 years we dared once more to widen our family planning. Background: our daughter has been diagnosed to suffer from CF at the age of 4 months, is in treatment since and she is doing very well. She will be 6 years old, soon. Now I am in the 11th week of pregnancy and also in best prenatal care. Until now, we exclude an amniocentesis, as the decision is clear. Now we would like to have good advice and want to know what can we do as soon as the baby is born. Assumingly take heel blood and probably diagnose or not. Probably there is already a hint during pregnancy. In case of our daughter, I had at that time markedly more amniotic fluid and one could see in the ultrasound that she had bulging bowel slings. We just want to have the best start possible, the best care and to do everything that is possible - we do not care about the costs. I have heard once, that one can protect the lung of ill babies with a drug within the first 24 hours of life. We are glad about your advice and hope not to miss anything. The mutations are: delta F508 and a stop mutation. As always many thanks, we are glad that you are there.
11.12.2015
Non pathogenic polymorphisms
My husband was tested for 89& of the CF mutations and no pathogenic mutation was detected. However, three non pathogenic polymorphisms were detected. Why are they in the report, since they do not cause CF? What is their role?
11.12.2015
Acetyl-cystein inject inhalation
Dear team, Is it damaging to inhale for a longer period of time with ACC (acetyl-cysteine) Inject? (on the celluar level?) . In former times there was only the inhalation with the substance. Many thanks.
11.12.2015
Production of mucus after transplantation
I, male, 50-years-old, have undergone sucessfully a double-lung transplantation in October 2013 with the diagnosis of COPD of unclear origin. Both sweat tests that have been performed 25 years ago, had been positive, the genetic investigation of the blood on the 15 most important CF-mutations remained negative. I suffer for about 12 months from a persistent recurrent, massive mucus production in the lungs, that could until now only be treated by regular bronchoscopies incl. lavages for a short period of time. I inhale daily with rh-DNAse, amphotericin, ipratropiumbromide and 6% NaCl. Additionally I use acetyl-cysteine for mucolysis. Furthermore I pay attention to a sufficient amount of drinking (more than 2.5 l a day) and do the autogenic drainage several times a day. What other measures/therapies/drugs could come into question for mucolysis? The mucus is very viscous and sticky, pathologically however totally unsuspicious. Many thanks for all the answers.
11.12.2015
christmas tree
To prepare Christmas days with my CF girl, what is the best: a "real" fir tree or an artificial tree because of the aspergillus risk. Thank for your answer and all answers of Ecorn Cordially
11.12.2015
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