Topics

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
F508del heterozygous- first recognitional breakthrough?
Hello, did I get it right from the English that for the first time there has been a significant improvement in the usage combination VX-661 and KALYDECO® (Ivacaftor) in case of F508del heterozygous patients "with/independent" of G551D? That sounds like a breakthrough for the heterozygous mutation F508del? I am not very experienced yet in this field. However try to clutch at every hopeful straw. Fixate first of all on preventive "full-value therapy". My daughter (3 years) was diagnosed to suffer from CF in October 2013. The mentioned heterozygous variant with another defect. And in here there were no findings until April 2014. In another paper I read, that one supposes that the combination of two molecular correctors and Kalydeco® will have until 2017 a high probability of success for the heterozygous mutation F508del? Many thanks in advance for your feedback, http://analysisreport.morningstar.com/stock/research?nav=no®ion=USA&culture=en_US&ProductCode=mle&symbol=VRTX http://investors.vrtx.com/releasedetail.cfm?ReleaseID=844677 Best regards, S.
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 the airways increases, also slight impairment of the digestion. Her sweat test values were at 31 and 33. Now we are sent to a nasal potential difference (NPD) investiagtion as we have been told that there are humans with this mutation who do not show any symptoms at all. Could you tell me something about this mutation? Does homozygous mean that my husband and I have bequeasted the same mutation? In how far does the mutation have to do with CF? Would it be an atypical form? Many thanks in advance.
28.07.2014
Leukocytes
Hello, my daughter, 11-years-old, suffers from CF and has for a few months much more mucus. The last three sputum samples were free of germs. However, our doctor asks all the time, if it had been a real good sputum. I always pay attention to the fact, that there is really mucus in it and not only saliva. Every time there is a yellowish plug in it. Also if she spits it out, it is yellow. He says that he asks this because there are no leukoytes in it. Could you tell me what this means if there are no leukocytes in the sputum? I thank you very much in advance, J.C.
28.07.2014
A 5-year-old child in contact with small dog
hello, My daughter is 5 years old and is often in contact with a small dog. She was diagnosed for cystic fibrosis: what are the risks and what can be done to avoid the risks associated to the contact with the animal? Thank you
21.07.2014
Rabbit in the school classroom
Hello, My son will be 6 years old, he is homozygous for F508del-CFTR mutation. He will start preparatory class next September. There are 2 teachers and one has in his class a cage with a rabbit ... We have to do a "Project of individualized school reception" but I would like to know what are the risks for our son if he would be in this class and if we have to ask him to go in the other class where there are no pets? Thank you for your reply.
21.07.2014
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