Topics

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
genetic test
My son aged 11 years is diagnosed with CF since infancy, he was diagnosed at 2 months. He has Pulmozyme®, pancreatic enzymes, vitamins, etc. With about 4 years of age he did the genetic test in Cluj-heterozygous for F508del, but we don't know if the other mutation was identified. I would like to ...
08.04.2014
sweat test
Hello, We have a little boy, 2 years and 6 months old. From the age of two years, when he starts going in the kindergarten, he starts to get colds. In October he had an adenotomy. We have done the genetic test for 32 CF genetic mutations, but it was negative. I want to do a sweat test but now ...
08.04.2014
Carrier Testing
Dear Team, Please can I ask your advice. I am worried that my 18 month old grandson may be showing signs of CF. I am not aware of any history of cystic fibrosis in the family, but know this does not have to be a necessary factor. To avoid causing any unnecessary worry and stress to our daughter ...
07.04.2014
DNA test/risk of passing CF on to children
Hello, me and my wife plan to have children. As a CF causing mutation has already been detected in my DNA, is there a high risk that our children will come down with CF? My wife was born on the Philipinnes, I am European, and it is very hard to find information regarding the relevant mutation ...
24.03.2014
Pancreatic insufficiency without steatorrhea or other symptom
Hello, my child was recently diagnosed with CF and pancreatic insufficiency (pancreatase < 50) at age 12. He used to exhibit the symptoms described for pancreatic insufficiency (fatty and many stools, smelly flatulence, tummy aches etc) to some degree until four years ago, but upon regular ...
24.03.2014
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