Topics

Sweating
Hello, our one-year-old son with CF is sweating for several weeks very strongly at the head, even if he is not too warmly dressed and it is not warm. Especially at night and when inhaling. His hair is often completely sweated wetly. Shall we get this investigated (and if yes, how?) or is it normal for CF patients to sweat very strongly? Many thanks!
29.07.2014
Baby wipes
Hello, my daughter suffers since birth from CF, after 7 weeks Pseudomonas has been detected and treated. My question is, if there is a danger that Pseudomonas can stay in baby wipes?
29.07.2014
Sweat test
If the sweat test is negative, does it means that I am a cystic fibrosis carrier?
29.07.2014
G542X
G542X heterozygous mutation and polymorphisms 7T and 9T from a villous biopsy- does this mean a healthy carrier status? (Given that I have a child with the mutations G542X and deltaF508 heterozygous)
29.07.2014
interpretation of cystic fibrosis result
Hello, can you please help me to interpret a result? Methodology: DNA was extracted from fetal cells from the culture. DNA molecular analysis for cystic fibrosis detection was performed using the kit "Genetic Cystic Fibrosis Assay 'ver March 19, 12, which detects 38 mutations plus genotype Tn. Screening of 39 mutations reaches a detection rate of approximately 80% of cystic fibrosis. Analysis was performed by direct amplification of genomic DNA by PCR followed by reverse-hybridization method. Result: Negative for 38 of the most common cystic fibrosis mutations. Genotype IVS8 poly T: 7T/7T Thank you very much! A.
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 mmol / l NaCl. What do I have to do next? What steps do I have to follow? Sincerely, C's mother
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 this time with an abnormal X-ray. The diagnosis this time was post-viral right pneumonia, cured also with antibiotics. She had two episodes of acute bronchiolitis, which were cured without antibiotics but only by nebulised treatment. the doctors who saw her, told me that she doesn’t have a profile for cystic fibrosis, but a pulmonary physician reminded me about this disease. Please tell me if you think if it requires a sweat test? She has 94 cm and 12 kg at the age of 3 years, no diarrhea or steatorrhea, no coughing besides those periods of illness. Thank you!
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 more to read about this or could you help me further what this does now mean in detail? Also, furhter diseases are underlying like a severe bronchial asthma difficult to control, many multiple allergies (pollen, food and drug allergies), diabetes mellitus type 2 insulin dependent, atopic eczema. It would be great if I would finally get to know more about the atypical course of the disease. Many thanks
28.07.2014
Headache due to Ventolin® (salbutamol)?
Hello, our 7-year-old daughter suffers for about 3 months regularly about 3 hours after the inhalation in the mornings of 3-4 puffs Ventolin® (salbutamol aerosol) and 6% NaCl from partly very strong haedache. An EEG and further investigations have been without pathological findings. Could this headache be due to a ceased effect of Ventolin®? (Withdrawl symptoms?) If not, can this have another CF-related cause? We are looking forward to your answer and thank you very much, J.S.
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 hawk it away. Because of the mucus in the lung I got asthma. Would it be possible that this could be a form of CF? Which kind of physician is making such a diagnose? Many thanks
28.07.2014
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