Topics

CF
I am a 15-year-old girl, and have had for 10 years unexplained abdominal complaints and since 4 years I often suffer from anxiety. I have a lot of mucus that I cannot cough up properly. Very occasionally I also lose some blood when I cough too hard. This blood is then mixed with mucus. Afterwards I ...
06.05.2015
Sweat test 3 times borderline
Hello, my son, 3-years-old, has had a sweat test for 3 times. Always in the borderline zone. Now a genetic investigation is done. The physician said, however, I should not get upset, this would not have any meaning, yet. Why can these tests be in the borderline zone and there is no illness ...
17.04.2015
Really CF???
Dear expert team, I am 30-years-old and suffer (allegedly) since my 17. birthday from therapy-resistant asthma. I have about two pneumonias every year without all the other infections. Now several times Pseudomonas has been detected and one speaks about a chronic colonization. Now I have been ...
17.04.2015
Amniocentesis
I am a carrier of the CF mutation N1303K, and more specifically of the heterozygote mutation N1303K (c.39C9, exon 21, Genctype IVS8 polyT:7T/9T). I have been checked for 46 common mutations (greek panel). I am 13 weeks pregnant. My husband will be checked, but we will have the results in one month. ...
06.04.2015
Question about finger clubbing
I am 22 years old and recently my doctor noticed that I have finger clubbing (I never suffered from serious respiratory infections, nor do I have an important medical history). I did blood and urine tests, a chest CT, a spirometry, a thyroid check, heart and abdominal echo, and an ECG, without any ...
02.04.2015
Sweat test below 10 however symptoms in spite of this
Hello, We are parents of a 2-year-old boy. He has not really gained weight since he was one year old and has eaten not well. We found it striking, that his head tasted very salty and that he had bowel movements very often. A sweat test had been negative (not even in the borderline range) and we ...
02.04.2015
Test for CF
Hello, I have a rather simple question, does every child, who is undergoing a sweat test, suffer from CF? We had two IRT tests that were not in the normal range and now we have to undergo a sweat test. Is there any hope, that we are not having CF? Thank you and best regards,
02.04.2015
Risk for cystic fibrosis: carrier father, no carrier mother (??)
Hello, I am contacting you because I am pregnant in the 3rd month now and I have concerns about my baby and a possible disease. We have learned recently that my husband's niece (daughter of his sister) was diagnosed with cystic fibrosis. We inquired about the disease and its transmission and had ...
13.03.2015
F508del/Normal Genotype and ENT symptoms
Hello, as I am heterozygous F508del / normal and had a sweat test of 59 in 2004 I was told that I am not sick but I have a treatment for nose and Eustachian tube problems that no longer works and causes a cholesteatoma. I am looking for a clear diagnosis. I live in the Var. Who to see?
08.03.2015
Early diagnostics
We know that our son (6 months old) has an increased risk for the illness of CF. A first screening test after birth did not show any hints for the disease and clinically he is up to now also totaly healthy. Now I want to know, if we should have a sweat test done nevertheless, to be able to start ...
02.03.2015
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