Topics

Mutation V470M homozygous
Dear expert team, My 5-month-old niece was diagnosed with the V470M homozygous mutation. Polymorphism: In3: c.274-179G>A (rs1429566)- homozygous In9: c.1210-13G>T (RS10229820)- heterozygous I have not been able to find any hits on the internet; I assume it is a rare mutation, since our treating professor in Turkey could not give us any more detailed information on this mutation. Our little one weighs 4890g, her pancreatic elastase value is >500 µg/g, she is currently not taking pancreatin. She inhales salbutamol 2.5mg 4x1/2 and budesonide 0.5mg/ml 2x1 daily. I would be grateful for any information/literature concerning this mutation. Regards.
30.08.2011
False positive sweat test
My son has had four suspicious sweat tests (last 96). The simple gene test was negative. He has to go to a specialist clinic now to have another gene test done. My question: how is he to have cystic fibrosis after all? Here still some information and answers.... My son is 12 years old. He has been investigated about 4 years ago due to his height. In the frame of these investigations, a sweat test had been perfomed automatically. As this test had been positive, again 2 or 3 tests have been performed later. All these have been highly positive. Then a genetic test had been performed with the 30 most frequent mutations and the test was negative. We have then been told by the chief physician that everything would be o.k. and we would not have to undertake anything. So, because he was badly off lately and he had to go to hospital more frequently (due to strong abdominal pain and diarrhea) another sweat test had been performed, which had, as described before, the result of 96. Now he should be investigated in Bochum, Germany. What speaks for this disease is: he is very small (12 years old, 135 cm high and 28.5 kg), permanent diarrhea (since his early childhood), probably his exercise-induced asthma and he has a fructose-intolerance for some weeks. Many thanks Yours sincerely,
30.08.2011
Separation in school, positive and negative, two pupils
Dear expert team, my daughter will probably have to leave her current school shortly, since she is negative and another girl is positive and both are on the same floor and in the same morning care group and also share the same playground. Due to renovation measures, the school is unable to meet the needs of both children. The shool was informed by the CF clinic that mz daughter could also contract a disease while using public transport. I am very despaired since I am scared that my daughter could catch a disease and I could catch it from her. Which strict measures have to be taken in order to separate the children as best as possible? Thank you and kind regards.
30.08.2011
Burkholderia gladioli
Dear expert team, after a 15-day imipenem therapy against Burkholderia gladioli, the first germ test was negative; now a few weeks later, however, an infection is traceable again. How would you proceed? Symptomatically, there is pain during breathing, which had ceased immediately after therapy and only returned at the same time as the germs reappeared. Other than that, no limitations. Will the germ stay if it is not treated? What is the prognosis for this germ regarding lung function, and how can it be that imipenem appeared as sensitive again in the microbial sensitivity test? Is a two-week therapy with this drug not sufficient? The dosage was 1 gram of Zienam® per 300 ml NaCl. Many thanks for your answer!
30.08.2011
Inhalation, in what order?
My daughter (7 months old, CF) has to inhale a number of different drugs. What order would be best for this? At the moment, she inhales the following drugs in the morning and evening: 1. salbutamol and Atrovent® (ipatropium bromide) 2. Mucoclear® (NaCl) 3% 3. Pulmicort® (budesonide) In between, twice a day: 1. salbutamol and ipatropium bromide 2. NaCl 3% Ist his order okay? Additionally, there is half a vial of Pulmozyme® (dornase alfa). Where can we fit this in best?
30.08.2011
Further question on ESBL
Hello, Recently there was a question and answer on ESBL e.coli. Both our children have CF and keep having germs with ESBL feature again and again, which have not caused any clinical problems so far. Now, however, a planned rehabilitation measure was cancelled on short notice because of this germ, since this seems to be in line with an agreement among the rehabilitation clinics. Is there a consensus on the evaluation of ESBL e.coli and ESBL klebsiella? Do these have to be considered “problem germs” even when they are clinically inconspicuous? Greetings.
30.08.2011
One-way nebulizer
Hello, many thanks for your information about the Porta-Neb. The one-way nebulizer is unfortunately only recommended for bronchodilators. Are there further inhalation devices with one-way nebulizer (suitable for Colistin and DNAse?) or what do you recommend for a journey abroad in a host family, where the disinfection is too "complicated"? Many thanks
12.08.2011
Two CF patients in the same school
There are 2 patients with CF at our school These children do not attend the same class, but will soon be in the same building. Which precautions should be taken or should one of them leave school?
08.08.2011
Diabetes
I have several questions concerning CF related diabetes. How does it occur in CF? How is the treatment? When should the treatment be started? Are there differences between CF related diabetes and diabetes? When in a CF related diabetes does one start a treatment with insulin?
05.08.2011
Severity of CF
If CF related liver disease or CF related diabetes occur at an early age (i.e. before the age of 4) does that influence survival?
05.08.2011
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