Topics

Borderline values for CF
We had a baby boy two months ago in Thessaloniki and the baby was tested for metabolic diseases (blood from the heel on a paper). Two days ago the clinic called for a retest for metabolic diseases. Our doctor said it was nothing to worry about because the value was 62 instead of 60 and it 99.9% we ...
03.12.2014
Question about diagnosis in adults
Since childhood my husband had problems with the lungs. He had pneumonia several times. He now has COPD gold 3 and a bunch of unclear symptoms such as problems with his liver, joint pain, a pre stage of diabetes,... I have lately noticed that he tastes/sweats very salty. I wonder if CF should be ...
03.12.2014
Meconium
My 13-year-old daughter has recently been examined several times because CF was suspected. She had a lot of lung infections with Pseudomonas etc. Shortly after her birth CF was also suspected (or Hirschsprung) because she did not release the meconium. After her birth she stayed 1,5 days in ...
10.11.2014
Prolapse of the rectal mucosa
Hello, my daughter is 6 weeks old and as I recently gave her for the first time a suppository, a slight prolapse of the rectal mucosa occurred due to the fact that she was pressing against it. Now I observed it another time during emptying the bowels. There are always only a few mililmeters, that ...
10.11.2014
CF test for only one parent
Hello, I would like to know the impact on my 5-year and 6-months-old daughter’s health who was F508del homozygous diagnosed in 2011. Regarding that only her mother has made genetic testing (her father did not wish to do), could you give me some information about it and whether it will affect ...
04.11.2014
Willebrand disease and CF prenatal diagnosis
Hello, my partner is a carrier of a CF gene mutation, so we made an test for me and I am unfortunately also carrier of the gene. We were explained the risk is 1/4 chance of having a child with CF and the possibility of diagnosis at 11 weeks of pregnancy. The problem is I have got also Willebrand ...
03.11.2014
Follow-up on question_sweat test
In following up on my last question (33 week-old preterm baby) I would like to let you know that the first IRT value at birth was 30 with 117 maximum value and 13 days later 52 with 90 to be the limit. We do have an older child at home (3 years old), but it does not attend a kindergarten, but he ...
03.11.2014
Can the diagnose change?
Hello, in the year 2008, two sweat tests of my at that time 5-year-old daughter were 59 and 78. After this, there were two further sweat tests at a university hospital with the values 26 and 12. The measurement of the elastase in the stool was 638 and 629 as double measurement. Therefore the ...
13.10.2014
Diagnosis of CF?
I am 54 years old. I suffer for about 12 years from the following chronic diseases without a detectable reason: pancreatitis, diarrhea, sinusitis and frequent infections like bronchitis, and atypical pneumonias. Even in case of severe cough I cannot cough it up. Two years ago bronchiectases had ...
06.10.2014
CT scan of the lungs appropriate?
Hello, many thanks for your help in advance! Age: 36, male, in the frame of a genetic investigation at a center for reproductive medicine a genetic defect has been detected (before history of hypozoospermia, infertility diagnostics in case of CFTR-related disorder). Bronchial asthma, allergic ...
29.09.2014
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