Topics

Chance of CF
Our baby was born at 33 weeks of gestation. The IRT test as a newborn was negative. The birth weight was 1650 gr and the first 5-6 months the baby gained weight very satisfactorily. Suddenly, he started having recurrent bronchiolitis. Since then he gained 200 gr monthly. Now, at 7,5 months of age ...
02.06.2014
Chance of CF for a fetus
Ι am in my 22nd week of pregnancy and the fetus was diagnosed with hyperechogenic bowel grade II. I did not have any bleeding during my pregnancy. After the recommendation of my gynecologist I did an amniocentesis and I and my partner gave a blood sample. The amniotic fluid and our blood was ...
03.06.2014
Occurrence possible only at adult age?
Is it possible that it occurs only at adult age (38) with symptoms in the mornings with cough until nearly vomiting, over the day dry cough, x-ray of the thorax without pathological finding, loss of weight, blood values and allergy test all without pathological findings, no other findings, ...
26.05.2014
borderline IRT test
I have an 8 months old baby girl that weighs 8.8 Kg and is 73 cm tall. The first IRT test at the maternity ward was borderline (126), the second one at 21 days of life negative (52). We have visited a gastronenterologist when she was 3 months old because her stools had blood and mucus. We were told ...
19.05.2014
3 months of cough
I have a 4-year-old daughter who has for the last three months a cough that sounds as if she has stuck secretions, mostly during the night when she goes to sleep (not during the night especially), but a little during the morning as well when she wakes up. In the meantime she coughs rarely. She was ...
14.05.2014
Sweat test in CF
Hello, we have only in May an appointment for a sweat test. Our son (6 months) has cough since his 5th week of life and wheezing. He weighs 9000 g. With such a weight, is there CF possible at all? Many thanks in advance.
14.05.2014
CF excluded?
Dear expert team, my daughter is 8 years old, since at least 5 years she has again and again strong bronchitis, now in the last year three times pneumonia. In general, she is very often ill, always with much mucus. Also she has chronic inflammation of the sinuses and also nasal polyps, that have ...
12.05.2014
False negative CF screening test
Can you explain how a negative CF screening test (at birth) can be a false negative ? Are such cases common? How can this happen? My son had this test done at birth, it was negative. After four months, and after many visits to the hospital, it turns out that he is suffering from cystic fibrosis.
29.04.2014
Disease Causing or not?
Hi, my 18 month old son's CFTR renotyping results are back. He is heterozygous for; c.[1521_1523delCTT] + c.[1584G>A] they also found sequence variants of limited or no known clincal significance; c.744-31TTGA[5]+[6] c.869+11C>T c.1210-12T[7]+[9] (poly T ...
08.04.2014
Diagnosis during pregnancy
Hello, mother of a 18 months old girl with cystic fibrosis, I'd like to get more information about the methods of detection of CF during natural pregnancy. At what point of pregnancy are these exams performed? When are the results known? Thank you!
08.04.2014
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