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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
CF yes or no?
Hello, My 4 month old daughter has F508del and R117H (7T,9T) What are the risks to have CF? Thank you
06.05.2013
Aquagenic keratoderma in a 8 year-old girl
Hello, My 8 year-old daughter has, since December 2012, an Aquagenic keratoderma (she is unable to keep her hands in the water, after a few minutes a painful unbearbale swelling occurs). The dermatologist in the hospital confirmed this, prescribed a sweat test (the result was 26) and now ...
03.05.2013
Sweat test
Dear expert team, Our son (14 months-old) has already had 2 sweat tests, the first one due to an obstructive bronchitis at the age of 3 months and the second one has been repeated as he had been in the university hospital due to an unclear obstipation at the age of 6 months (this obstipation was ...
22.04.2013
Hyperechogenic bowel
I am having my first pregnancy. During the second level ultrasound a very mild hyperechogenic bowel was detected, as well as an echogenic field in the heart. The doctor said that if these findings do not recess by the 28th-30th week I must do an amniocentesis. I did the test for CF. What do you ...
18.04.2013
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