Topics

Cystic Fibrosis
After the genetic testing for CF mutations my wife was found to be a carrier of the c.476T>C, L159S exon 4 mutation. She is now 16 weeks pregnant. I am being tested for the 95% of CF mutations. In case I am a carrier of a CF mutation, what chances does the fetus have to suffer from CF and what kind ...
07.01.2018
Your opinion
I have a son 20 months old who is 81 cm tall and weighs 9.5 kg. Apart from his small statute, he does not have any of the CF symptoms I have read about. He got ill once and he coughed, but he got over it in two days easily. His stool is normal, his sweat is not salty. Sometimes he eats well, others ...
07.01.2018
Carrier or patient?
My son is 10 months old, weighs 8 kg and is 75 cm tall. He suffered from dehydration last summer and we were hospitilised. We discovered that he carries the del508 mutation. We did two sweat tests at Hippokation Hospital and both were negative (values 22 and 23). We were tested for 85% of CF ...
12.12.2017
Symptoms of baby
Dear team, By instance, a gallstone has been discovered in our 12 months-old son. The physician is sending us now for having a sweat test done. He has had a cold about 3 times, with cough. The symptoms disappeared however within one week without drugs. His nose is frequently congested. Otherwise ...
12.06.2017
Sweat test
Hello, my daughter has had a sweat test in a CF center. I have been told, that for diagnosis only the chloride value was important, this could however take some time. As I am a worrying mum of a perterm baby, one could see my fear and I got the information that the conductivity was about 35 ...
19.05.2017
Juvenile arthritis and CF
I have a 4 year old boy who was diagnosed with juvenile arthritis 2 months ago. He has started treatment. His weight is the same the last few months, something that worries me. He weighs 14 kgr and is 103 cm tall. Since last week he has a productive cough, which has not got any better, despite ...
15.05.2017
Parents - carriers of CF mutations
Good morning, I am at the 12th week of gestation with my second child, and my doctor recommended to check for CF, something my gynecologist had not recommended during my first pregnancy. I was checked for 85% of the CFTR mutations and I was found to carry the G542X mutation. My husband was ...
15.05.2017
CF possible?
Hello, my daughter is 14 months old and has, after a severe infection with RS virus at the age of 9 weeks, persistent bronchial problems, she gets an inhalative steroid and montelukast permanently. In the last 2 months she had two times a bronchitis and 2 pneumonias short after the other that had ...
12.05.2017
Sweat test versus newborn screening
Helllo, our daughter has had a newborn screening at birth, 2.5 years ago, the result was normal. The sweat test last week was at 95. Which test can we trust more? Other hints are cough (without mucus) and she gets infections very easily. The weight is normal.
28.04.2017
Sodium- and chloride values not clear
Our 16-year-old daughter had a sweat test done, because her height is only 1.48 cm (I myself have only 1.56cm height). The sodium value was 68 and the chloride value 39. We have had these values alreday for the second time. She however does not have any symptoms, in spite of panic attacks with ...
03.04.2017
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