Topics

Sweat test
If the sweat test is negative, does it means that I am a cystic fibrosis carrier?
29.07.2014
Result of ionotophoresis (sweat test)
I have a 13 year and 9 months old child. He had the first iontophoresis test and the result was 78 mmol / l NaCl, but he was in treatment with nebulized fluticasone fl/2/day. In November 2013 the sweat test was repeated, one month after he ended the treatment with aerosols and the result was 36 ...
28.07.2014
Necessity of sweat test
A 3-year-old girl, who grew up normally, was diagnosed with enterocolitis at 8 months of age. Everything was normal in the past year. At the age of 2 years she had interstitial pneumonia, cured immediately with antibiotics; after almost a year since that episode the pneumonia appeared again, but ...
28.07.2014
Klinefelter syndrome and CF
Dear expert team, your colleagues diganosed me to have the caryotype of Klinefelter syndrome, also the further diagnostics revealed two sweat test that were more than positive. The suspicion was communicated that it could deal with an atypical CF due to the Klinefelter symdrome. Is there anything ...
28.07.2014
Cystic fibrosis?
Dear experts, I (28, female) suffer for years from mucus in the lungs, thorat, nose. Reflux has been excluded, lung has been investigated, no allergies, nose has been investigated without result. For a longer time digestive problems. Especially the mucus in the throat is disturbing as I have to ...
28.07.2014
Mutation
Mutation c.-8G>C (rs1800501) homozygous Dear expert team, this above mentioned mutation is in the genetic result report of my daughter, who is 4.5 years old and suffers constantly from birth on of obstrucitve bronchitis. She has already had 3 pneumonias and partly, if the mucous congestion of ...
28.07.2014
Newborn screening and sweat test
Dear expert team, my daughter (18 month old) suffers from her 15th week of life on of chronic productive cough of unknown origin. Three weeks after the cough had started at that time, she got a long lasting bronchitis (RSV negative April 2013), that did not resolve. With the inhalation of ...
21.07.2014
Can CF also occur without pulmonary symptoms?
Dear Sir/Madam, My son (3 years and 3 months) is currently being tested for CF. He had a sweat test, but unfortunately the test failed because he didn’t produce enough sweat. However, I do not think my son has CF because he has no pulmonary symptoms. He has upper respiratory infections (with ...
08.07.2014
Persistent cough
My son is 6 years old. He was examined by Dr. Doudounakis about a year ago, as he had repeating episodes of productive cough and because his sweat seemed very salty to me. We did a sweat test and the result was 26. Last winter we had some episodes of moderate cough. For three weeks no he has a ...
24.06.2014
Need for help(assistant) for a diagnosis on a 15-year-old child
Question hello, me you already have to put 2 questions for my 14-year-old son but not received of msg from you!! In other has this day the paediatrician who take care of him vien with leaving in another hospital then about one d other is going to take care of him all what j knew before his(her,its) ...
24.06.2014
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