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Positive sweat test - negative gene test
Hello, I have a 5-year-old daughter which suffers constantly from colds, gastro-intestinal infections and loss of appetite. She weighs 15.6 kg only with a height of 111 cm. 2 years ago my pediatrician had the idea of doing a sweat test. We did this 3 times and all 3 test were positive (far beyond 100). I had this test done in a hospital which is also specialized in CF. The conductivity had been measured, that is what I know. In one of the results however, the chloride content of the sweat had been measured and the value was 112. How reliable is this measurement??? Furthermore, an x-ray of the lungs had been done, which showed little changes, it has been said, the lung was involved minimally. An intolerance of food, an allergy to food, celiac disease or the other things, that could lead to a positive test result had been tested and were negative. Furthermore the CF-doctor there said to me that it was normal for CF patients that they suffer from loss of appetite. And I have been told, too, that every CF has a different course. One patient has all symptoms, the other only one symptom. My daughter suffers every 2 weeks from a gastro-intestinal infection and I have been told that this is typical for CF, too. We have been told that therefore the diagnosis of CF has been proven. I have read that many CF-patients have Hippocratic nails, I have seen them in my daughter. I have read yesterday that there is another illness which can be compared to CF and has mostly the same symptoms – cartagener syndrome. Can the sweat test also be positive with this syndrome? To be on the safe side we have also done a gene test on the 25 most common mutations – negative. The doctor was of the opinion that she might have a more seldom mutation and did a test on the other 800 mutations – negative. For me it is now the question why the sweat tests have been positive in spite of this??
13.09.2010
Falsification of CF sweat test result?
If our daughter did a sweat test in the hospital while having an infection (pneumonia) and taking cortisone and inhaling salbutamol, will the test result (which was negative in our case) be falsified? We heard that an infection and various drugs can skew the sweat test result. Our pediatrician says this is true, but then the result would be shifted towards the positive and not at all be negative. A second opinion said yes, but it could generally be falsified in both directions (positive as well as negative)?!? Which one is right???
13.09.2010
Pregnancy and cortisone
Hello, I am im my 33rd week of pregnancy and have a 5-year-old daughter with CF. We did not check whether our unborn child has CF too. I have been given Urbason® (Methylprednisolone) intravenously (60 mg) and have to take Deltacortene® (Prednisone) for three days due to allergic asthma. Could this have negative effects on a potential CF with our unborn child? The gynecologist said that cortisone is not harmful at all, but I would like to get a second opinion nevertheless. Many, many thanks.
09.09.2010
Mild/atypical cystic fibrosis
Dear expert team, our daughter was diagnosed with the R553x/IVS8-5T-TG12 mutations. QUESTION: Is there a difference between atypical and mild cystic fibrosis? Many thanks.
09.09.2010
Slight CFTR dysfunction
Hello, Many thanks for your answer concerning the R553x/IVS8-5T-TG12 mutations. [Comment: this refers to the question/answer pair “Atypical/mild cystic fibrosis” submitted in April, 2010.] Among other things, you told me that one has to reckon with slight CFTR dysfunctions with these mutations. What exactly does that mean? Many thanks for your answer. Kind regards.
09.09.2010
MRSA -- follow-up question
[Background: the questioner's 19-moth-old son has CF; she is worried that her partner's grandmother might have MRSA and was asking for advice. Among other things, the expert recommended for the grandmother to have nasal and throat swabs done in order to rule out or prove MRSA.] Hello, many thanks for your answer. As for the general practitioner -- this is our problem exactly, because they [the questioner's mother in-laws] will not do it. They are letting us down completely and just smile at the whole thing. However, I am wondering: if my partner visits his mother, who spends a lot of time with the sick grandmother after all, should he do the 3x30-second hand disinfection routine too when he comes home? We do not visit with the grandmother at all anymore, but we do meet the grandfather. How dangerous can this contact be? (He always wants to stroke my son's face, which I do not allow him.) Again, many thanks for your effort.
09.09.2010
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 of F508del and a mutation at the binding site of the primer) could be done in parents' samples. My question now is: Should we have her tested for further mutations? Which consequences could that have for therapy and who should be tested for what? Parents, child? Thanks for your effort. Kind regards.
07.09.2010
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 allele (7T/9T; normal alleles).” I am not aware of any incidence of CF in my family so far. Thus, I live without the clinical symptoms of classic CF. Nevertheless, I have been wondering since getting this diagnosis three weeks ago whether individual aspects of my body/my health should be re-evaluated given this diagnosis, and would appreciate your advice on this. I am not interested in a diagnosis, but would like to know whether certain abnormalities could be explained at all in relation to CF. Build: minor male body hair despite normal testosterone values, slightly enlarged breasts (Tanner stage B1 on both sides, muscles relatively poorly developed). Voice: voice break not completed during puberty, granuloma on the vocal chords, vocal chords often feel throaty, my speech therapist found that my chest is often not opened optimally. Neurology: suspicion of restless leg syndrome, occasionally trembling hands without restlessness or feeling cold. Allergies: strong allergies against early-bloomers and others lead to rather exhausting constant sneezing (which fortunately can be regulated by medication). Stomach: frequent acid reflux or abdominal murmurs. I would be happy about any hints.
07.09.2010
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 yellow mucous). An MRI showed chronic polypoid pansinusitis. A suspicion of CF was raised. A sweat test we had done yesterday returned a normal value, though. My son is sweating very, very heavily, could this affect the test value? It is worst on his head, and the sweat is very salty there, but only there. Please send me an answer, none of the doctors can tell us what he has. Thanks.
07.09.2010
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 (exon 11)  from my husband. What exactly does this mean for our daughter regarding 1) progression 2) potential participation in clinical trials for new drugs 3) standard therapy 4) potential future gene therapy? Does she have classic CF or a rather rare form? Many thanks for your answer.
07.09.2010
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