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genetic test
My son aged 11 years is diagnosed with CF since infancy, he was diagnosed at 2 months. He has Pulmozyme®, pancreatic enzymes, vitamins, etc. With about 4 years of age he did the genetic test in Cluj-heterozygous for F508del, but we don't know if the other mutation was identified. I would like to ...
08.04.2014
sweat test
Hello, We have a little boy, 2 years and 6 months old. From the age of two years, when he starts going in the kindergarten, he starts to get colds. In October he had an adenotomy. We have done the genetic test for 32 CF genetic mutations, but it was negative. I want to do a sweat test but now ...
08.04.2014
Carrier Testing
Dear Team, Please can I ask your advice. I am worried that my 18 month old grandson may be showing signs of CF. I am not aware of any history of cystic fibrosis in the family, but know this does not have to be a necessary factor. To avoid causing any unnecessary worry and stress to our daughter ...
07.04.2014
DNA test/risk of passing CF on to children
Hello, me and my wife plan to have children. As a CF causing mutation has already been detected in my DNA, is there a high risk that our children will come down with CF? My wife was born on the Philipinnes, I am European, and it is very hard to find information regarding the relevant mutation ...
24.03.2014
Pancreatic insufficiency without steatorrhea or other symptom
Hello, my child was recently diagnosed with CF and pancreatic insufficiency (pancreatase < 50) at age 12. He used to exhibit the symptoms described for pancreatic insufficiency (fatty and many stools, smelly flatulence, tummy aches etc) to some degree until four years ago, but upon regular ...
24.03.2014
CF diagnostics
My 3 and half old son suffer of often breathing infects and long lasting cough.Usually dry cough time to time moist cough. Is possible to have CF when he went through a neonatal screening on CF in 2010 and chlorid swap test two years ago?. Both with negative results.our doctor advices to do chlorid ...
24.03.2014
CF in blood work but no symptoms
About 12 years ago it was found that i had full blown CF according to my bloods but i've never had any symptoms - this was found as i was trying to do egg donation. I am now wondering if this is common or whether it is rare and somebody may be interested in it? Both my parents were then ...
24.03.2014
Again question about sweat test
Dear Doctor, I have reported a few days ago that my daughter had a pathological sweat test. You recommended a sweat test on both arms. Yesterday we have been at a CF center. A new test has been performed, however only at one arm. New value 25 mmol. Therefore normal. However, there I haven't ...
24.03.2014
Classification of the illness possible? What to do?
Hello, many thanks for your help in advance! Please tell me, how I have to react to the following conditions in order to find out, if I suffer from CF and what I can do in order to impede the development of further clinical symptoms: Age: 36, male, in the frame of a genetic investigation at a ...
28.02.2014
Sweat test borderline?
Hello, yesterday we have been with our daughter at a center spezialized in pulmonology, as asthma was suspected. However, as she has again and again vomited mucus in the mornings, they performed a sweat test. The value was 52 mval/l. The physician said, the value was normal, however our ...
28.02.2014
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