Topics

Siblings – yes or no?
Hello, our daughter (CF patient, very good and stable course of illness so far) is now two years old and will start kindergarten in April. We had originally planned to have two or three children. After the diagnosis about two years ago, this was not really an issue for some time. In the ...
12.01.2012
polymorphism
Is there a relationship between the type of polymorphism detected in the patient and severity of cystic fibrosis? Our child has detected delta F508 heterozygous with 7T-9Tpolymorphisms and heterozygous R1070W. Thank you!
02.01.2012
deltaF508 and R1070W study
Our child is compound heterozygous for deltaF508 and R1070W, with minimal clinical manifestations so far (pancreatic sufficiency, without pulmonary complications so far, only episodes of severe dehydration). We found a study (link attached) which refers to the 2 mutations, but I dont understand it ...
03.01.2012
mutation R533X and R933G
Hello, I have heterozygous mutations R533X and R933G on each chromosome. To which class of mutations do they belong and what organ diseases do they cause? Thank you.
23.12.2011
uncertain cystic fibrosis diagnosis
I have a daughter of 11 years old, diagnosed with cystic fibrosis, 3 years ago(the first sweat test was 68 and the second one 62). Tests were performed ​​after the third episode of pancreatitis (she does not have respiratory symptoms). The genetic test revealed heterozygous genotype for ...
23.12.2011
Mutations in Cystic Fibrosis
How many mutations in CFTR in the CF gene are known so far ?
01.12.2011
Cystic Fibrosis
Why do so many mutations cause this one disease cystic fibrosis ?
01.12.2011
cystic fibrosis
I have a 3 month old daughter diagnosed with cystic fibrosis, my question is : if mother is a carrier and father is not, could it be possible that my daughter to become only carrier and not having a severe form of CF, requiring mechanical ventilation.
24.11.2011
CF- diagnostics
Hello, my mum died in 2003 of CF. Where could a sweat test or genetic test be done? Is it paid by health insurance or by a patient? Thanks in advance
13.12.2011
CF_2
My son is almost one year old now. When he was three months old, a test showed that he has a high level of chorides in his sweat. Since then we have gone to medical every month but my son hasn´t been ill yet and he doesn´t even cough. His genetics test confirmed that he has CF but I didn´t get ...
22.11.2011
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