Topics

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
CF
My daughter is 4.5 years old. She has been diagnosed to suffer from asthma at the age of 3 years. She is ill very often, every moth at least one time and nearly every time she has a pneumonia! She is spitting then always very much of a thick yellowish mucus that is like chewing-gum. She has had a ...
15.05.2013
Elastase: two different results
Hello, My 12-month-old son had last month an elastase assay which showed a moderate exocrine pancreatic insufficiency. 15 days later, a new analysis indicates that there is no failure. Which value should we believe? The only difference between the two tests is the type of diet. Can it affect ...
13.05.2013
Elastase
Hello, Because having a cyst for many years that compresses the pancreatic duct, the gastroenterologist did an analysis of elastase. The result is 543 mg /g. Should we be worried about this or is it just normal? I saw that above 200 = normal subject, but with my 543 = am I wrong?
07.05.2013
Potential cystic fibrosis
Me and my husband are CF carriers. I have the F508del mutation and my husband the R117C. We have a two year-old daugter with a mild CF and a five and a half year-old son with the F508del mutation. Some doctors and genetists say that my son is simply a carrier, even though he has two sweat tests at ...
10.05.2013
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