Topics

Common mutations
Hello, in Slovakia 30 most common CF mutations are tested. My question is, if these 30 are also the most severe ones or if disease severity is not related with frequency. Thank You for an answer.
16.07.2009
Mutation
hello, I want to ask how severe is a mutations combination - compound heterozygout for F 508 del and 3849+10kbC>T and what course of the disease could we expect in future? these are mutations of my 1 year old daughter. Thank You for an answer.
30.07.2009
Screening for Cystic Fibrosis gene
How do I check if I am a carrier of the Cystic Fibrosis gene?
09.07.2009
CF-gene
I have a half-sister, she has been diagnosed with one CF-gene. As I did not know here up to now, I fear, that my son as nephew resp. half-nephew also carries that gene. Is there a probability for this? My sister and me we have the same father, but not the mother??!! Thank you
02.07.2009
Course of borderline-CF
Dear expert team, for just another time I have a question for you: My daughter, nearly 5, mutations R116X/R1048G did up to now have only slight problems with her CF. This winter she has had infections more often, which had to be treated with altogether 6 antibiotic therapies. At the half-year ...
30.06.2009
Heterozygous state
Dear ladies and gentlemen, I 34 (female) as well as my daughter 7 suffer from CF. My question, in my son (14), CF has been exculded 2 times but why is it written in a doctor's letter (gastroenterologist) "We would recommend additionally a renewed genetic counselling to exclude a ...
25.06.2009
Hyperechogenic fetal bowel
Good evening. I am 22 weeks pregnant and during the routine ultrasonograph the doctor diagnosed hyperechogenic fetal bowel. Without having any positive family history I have been checked at Laiko Hospital, Athens for the 75% of possible cystic fibrosis mutations and the results were negative. How ...
22.06.2009
CFTR gene
Hello, in my husband, the CFTR-mutation R553X has been diagnosed heterozygous. In order to exclude a CF at our daughter, a sequence analysis of the CFTR gene had been done to her. The CFTR-mutation p.R553X has been detected heterozyogous, a second mutation could not be detected fortunately. ...
08.06.2009
Heredity
My grandparents had 6 children in total, 3 boys and 3 girls. All 3 girls died shortly after birth (max. 3 weeks). My grandmother cannot tell me how these children died, but ‘something was said about an enlarged pancreas’, and it was also said that it was only by chance that all 3 girls had ...
03.06.2009
Heredity
My son is going to have a child. He does not have CF, but has a younger brother with CF. How can he find out if he is a carrier?
03.06.2009
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