Topics

8 year-old girl with aquagenic keratoderma syndrom (follow up)
I asked about your opinion on my 8 year old daughter with Aquagenic keratoderma syndrome that appeared 6 months ago. Sweat test is 26 (performed 2 months ago). We have just received the results of the genetic blood test, which is negative for the 32 CFTR mutations studied in France today. By cons ...
01.07.2013
How likely is the diagnosis of CF?
Hello, I write here as I am nearly turning crazy because of the fear about my newborn daughter. It is like this that she has been born 2 weeks before the calculated birth date via cesarian section, everything looked fine. However, she did not evacuate the meconium. She had an ileus (meconium ...
01.07.2013
FEV1 in mild forms of cystic fibrosis
Hello, Are FEV1 of 100 % after the age of 30, history of frequent bronchitis, immunodeficiency in childhood, rhinitis and chronic sinusitis, and unexplained abdominal pain consistent with a mild form of cystic fibrosis?
19.06.2013
Chorionic villus sampling (CVS)
I would like to know how long I have to wait for a first result after a chorionic villus sampling (CVS) with respect to cystic fibrosis? Many thanks
17.06.2013
Genetic testing of a sibling in spite of negative sweat test?
Dear expert team, we have a daughter at toddler's age suffering from CF as well as a son of 7 years. At the time the diagnosis of CF was made in our daughter, we also had a sweat test done to our son. This test showed a value of 11 mmol/l in the normal range. The sweat test had been performed ...
12.06.2013
Siblings of children with CF
My firstborn child is 16 and visits the doctor just for vaccinations, as does my second born who is 10 years old. Their little brother is 3 years old and has CF. Do they need to be tested? The truth is that just the idea of testing makes me very anxious. The oldest one is in her last year at ...
12.06.2013
IRT-test elevated
Hello, the screening of my newborn showed an increased IRT-value. Now we have to have it controlled in 2 weeks. Have now great fear that my son could suffer from CF. What is the probability? Many thanks in advance, M.
05.06.2013
MRI for a 5-year-old child?
Hello, we have a 5-year-old child with CF. Our child is doing very well. Up to now, no problematic germs have been detected and the lung function is also very good. Now we have been told at the last visit of the CF center, that one would like to do in future an MRI with our child in order to ...
05.06.2013
healthy carriers
My niece has CF, the whole family has been tested and two other children are carriers. So 1 out of 7 children has CF and 2 are carriers. The other two children are compared to the non carriers often sick, so I told my sister in law who I thought was carrier of CF in her family. This was ...
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 ...
29.05.2013
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