F508del homozygous

Question

Hello,

I have a question: my daughter has CF with the mutation F508del homozygous. Does anybody know what this says about the course of the disease?

Answer

Hello,

You ask about the probable course of the disease of your daughter who has a homozygous status for the mutation F508del. Generally speaking, the individual course of the disease of each patient depends on many different factors. Of course, genetics plays a considerable role. However, in twins in whom the same mutation is triggering the disease have very different courses of the disease. Therefore, it is assumed that so called modifier genes have a clear influence on the actual course of the disease. Environmental factors, accompanying diseases, the quality of therapy, the age of diagnosis and many other factors play a role. A more specific prognosis about the course of the disease cannot be given on an individual basis. However, the child will most probably have a pancreatic hypofunction and that the lungs will also be affected. Patients with a homozygous status for the mutation F508del show the classic full clinical picture of the disease cystic fibrosis. However, it cannot be predicted how the affection of the lungs will develop. This depends, as mentioned above, on many factors which can partly be influenced in a positive way on an individual basis. Therefore, it is very important to discuss your daughter’s therapy with the doctors of your CF centre intensely.
We wish your daughter and your whole family good luck.

Best regards,
Dr. H.-G. Posselt

07.04.2011