Topics

Wish to have children
Dear team, my partner and I, we want to have a child. Until now, it did not work and now an azoospermia came out in my partner. The urologist said, we could have a genetic investigation done, if he wanted. My husband (31) has no symptoms. He hasn't any problems with digestion, nor with the lungs ...
20.07.2018
distended gallbladder and hyperechogenic bowel
Our second baby (I am 20 weeks pregnant) was diagnosed with distended gallbladder and hyperechogenic bowel. Are these two connected, or not? Could you give us some information about the first, which is somewhat rare? Is amniocentesis advisable?
22.06.2018
Should we do a sweat test?
My daughter is 19 months old, weighs 8.5 kg and is 76 cm tall. As you understand, we have nutrition issues. My eldest daughter is 5.5 years od and is pretty thin (15.5 kg). Our paediatrician has done some initial tests for the low weight issue and the results were good. She told us that the child ...
11.05.2018
possibility for CF
I am a mother of two children. My second child has a persistent wheezing. We have had a full respiratory examination, an Xray and we did a sweat test with a result of 19.2. The first testing of the sputum reported pseudomonas, but not the second one. We were advised to have a genetic testing for ...
09.02.2018
Stenotrophomonas maltophilia and sweat test
I have a baby girl, 11 months old. She had secretions and we visited the pediatrician, an ENT doctor and a pneumonologist, we had a chest an xray and sputum cultures. The only finding was Stenotrophomonas maltophilia. We will do a sweat test. During my first pregrancy I was tested for CF mutations ...
19.01.2018
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
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