Topics

Monozygote twin - CF testing
Without any history of CF in our families, we decided for my husband to get tested for 89% of the CF mutations. Given the fact that he has a monozygote twin, who does not have children yet, we believe that, due to almost identical DNA, the genetic testing will cover him as well. Is this true? Can the CF mutations be influenced by environmental factors? The results were negative for any pathogenic mutations.
22.12.2015
salty sweat
I have a 14 month old boy who is still getting breastfeeding and has a diet rich in vegetables, fruits and meat. After reading about CF, I started gettting worried because his sweat is salty and he has persistent nose congestion. I wonder if these symptoms warrant a sweat test? When I kiss him on the head his sweat is salty and smelly, even though he may have had a bath two hours ago. How salty is salty? My sweat, for example, isn’t. Our paediatrician, who monitors him on a regular basis, has not detected any respiratory problems and has suggested aerius for the congestion to check if it is some kind of allergic rhinitis. The child is 82 cm tall and weighs 10.6 kgr. Thank you!
22.12.2015
blurry sinuses
Is it possible to have a negative CFTR sequence and totally negative sweat test (27 mmol/l). I am a 39 year old male. I have chronic sinusits for the last 4 years, especially during winter, spring and autumn. My vitamin D is rather low (26.8).
22.12.2015
genetic testing
I wish to have a second child. I was tested for 90% of the CF mutations and I was found to be heterozygote for c.443T>C. I do not carry any other mutations. Can I start trying to have a child, or must my husband get tested as well. There is no family history. Thank you!
22.12.2015
Worsening of the prognosis because of Pseudomonas?
Hello, what is the actual guidelinde in case of chronic colonizsation with Pseudomonas? Which role do the Pseudomonas antibodies play? Is it still like this that a chronic infection with Pseudomonas, that is treated according to the acutal guidelines, leads to a worsening of the prognosis/lung function? Many thanks that you take your time!
17.12.2015
Physiotherapy differences worldwide and prognosis
In the USA, CF patients are treated from the first year of life with a vibration vest, that should lead to a better coughing up of the mucus via mechanical support. In Germany this is not recommended. Why are the opinions so different? Are there any studies/data about the question if such a mechanical vibration leads to an improvement or to a worsening of the lung function? How is it justified here in our country, that those vests are not recommended? Are there any differences in the prognosis of CF patients in the USA and Germany?
17.12.2015
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
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