Topics

F508del mutation – other mutations possible?
Hello, A gene test my daughter had done returned homozygous F508del (codon507/508-CTT). The test report further says that the MLPA analysis did not show any hint of a deletion of the CFTR gene and that the assumed homozygosity of the above mutation (e.g. as opposed to a compound heterozygosity ...
14.06.2010
Physical symptoms with mild mutation of the CFTR gene
I (male, 30 years old, central-European descent, 170cm, 71kg) have azoospermia, which was explained by evidence of a presumed compound heterozygous combination of the F508del and R117H mutations. More precisely, the statement says that “the patient is heterozygous for the IVS8-7T and the IVS8-9T ...
14.06.2010
Croup?
Hello, my 6-year-old son has been having coughs (infections) since age 1 and has to throw up mucus. The doctors said that he has croup. It is getting worse each year. Last year he had a budding pneumonia and empty-stomach vomiting, abdominal pain, and strange stool (brown-white-yellowish with ...
14.06.2010
Genetic analysis – interpretation
Hello, our six-month-old daughter was diagnosed with CF a while ago. My husband and I have taken a gene test which returned the following result. The following molecular genetic result has been determined for our daughter: heterozygous mutations delta F508 (exon 10)  from me, and G542X ...
14.06.2010
Treatment of a long-term germ colonization
I have been living with the CF diagnosis for a long time. Today, the doctors think that it is not CF but “only” COPD with bronchiectasia. I have several infections every year which are always treated with antibiotics in tablet form (for several years now mostly cefuroxime and moxifloxacin). ...
09.06.2010
Place of residence
Hello, your daughter (7 months old) has CF. We would like to move from Berlin into a little house in the "countryside" (small town). The treating clinic can be reached within a half hour. Our question is aiming at the climate in the countryside, which is located at the brink of a low moor area. ...
04.06.2010
Schuessler salts in addition to traditional medicine
Dear expert team, one always strives to do the best for one's child and against CF. Now my question: can it be reasonable to draw on naturopathic treatment in addition to traditional medicine, or will there not be a positive effect? I actually am someone who does not really believe in it, but if ...
02.06.2010
Multiple sclerosis with CF
Dear expert team, I am a female CF patient, 43 years old, and have been in a good general condition lately. After a sensation disturbance in the left side of my body (from hands to feet) the MRT showed old and new centers of inflammation in the brain. Do you know of any patients who have CF ...
02.06.2010
Zithromax®/azithromycin
Dear expert team, I have a question: does it make sense to administer Zithromax® three times a week? Are there any objections concerning resistances? Which side effects have to be expected? Many thanks.
02.06.2010
Moving out
Hello, we have a question. Our son is 31 years old, of excellent health and has now decided to buy an apartment. We are a bit concerned now whether he will continue to be as healthy when living alone and whether he will be able to work long-term. We know that this is a difficult issue. Many ...
02.06.2010

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