F508del/F508del

Question

Thank you for your reply. Here is more detailed information about diagnosis of my son. In my first question I had no documentation at hand. My son was diagnosed with CF, F508del homozygote. I would like to ask what that means.
Thank you very much.

Answer

Hello,
delta F508 mutation is the most frequent mutation of so-called CFTR gene in the world and in homozygotic form, meaning F508del/F508del leads to a classic form of the disease. The classic form of CF manifests itself with a high level of chlorides in sweat, which your son has, insufficient outer secretion of pancreas (that is why based on the findings from your son’s stool the doctors administered pancreatic enzyme substitution - Kreons), various levels of airways infliction and also infertility in male patients. It is very important to keep up with all the treatments and that means from the day the diagnosis has been confirmed in order to avoid serious complications which are part of this illness. Well cooperating patients who abide all the treatments correctly then lead a full-value life in the same way and sometime even more actively than their peers and very often only a specialist can tell how serious disease they have.
It is definitely correct to go throught all the questions and clarify everything with your doctor, eventually to get in touch with a patient CF organization so you can meet other families with CF.
Warm regards and all the best, Jitka Brazova

23.04.2009