Bitte beachten Sie: Manche Informationen sind nach einem Jahr noch aktuell, andere schon nach drei Monaten veraltet. Wenn Sie sich unsicher sind, können Sie gern nachfragen.

CF variants

I read your site and asked about my daughter's mutations.
I have a 5-year-old daughter who was diagnosed with cf's disease by chance and to check for a birth defect in her lung.
Her sweat test was positive and the genetic analysis of the two mutations a120t and m952i identified.
I did a lot of research on these two mutations and so far I haven't found a definitive result for their pathogenicity.
My daughter is currently taking sodium chloride nebuliser treatment but does not have the classic symptoms of cf disease. Her pancreas is ps.
Please provide expert opinions on the combination of these two mutations.
Dear questioner,
unfortunately the English Site of Ecorn-CF is closed, so you cannot ask questions in English anymore, just read old answers in the Archive.
You can still ask questions in German to our German experts.
This is the reason why we cannot answer your question.
Sorry for the inconvenicene.
Best regards,
Daniela d'Alquen for ECORN-CF