Mutation

Question

Hello,
I am 35, I have been diagnosed since January 2010 (at 33 y.0.). I have always had stable respiratory problems (bronchiectasis). As I got worse in 2009, I was tested.
I was found F508del/A1025D. I only have a rather stable respiratory disease (3-4 oral antibiotic courses a year because of MRSA), but severe fatigue prevents me from working.
Do you know this association?
Thank you for your response.

Answer

Hello,
There are over 1800 mutations on the CFTR gene. The F508del mutation is the most common, found in approximately 70% of patients. Other mutations are much rarer, present in less than 5% of patients and most of them have been described only in a few patients. The majority of these very rare mutations have not been functionally characterized, and for most the pathogenic potential is not clear (according to Castellani et al, Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice, Journal of Cystic Fibrosis 2008). This is the case for your second mutation A1025D, reported in the U.S. CFTR gene database in one patient. Nevertheless, it is likely that this mutation is a “moderate” one, not associated with pancreatic insufficiency. This may also explains why your diagnosis was made late.
It is nevertheless important for you to be followed in an adult CF centre.
Cystic fibrosis in itself can cause significant fatigue that requires reduction (or more rarely stop) of the professional activity. Part time work can often greatly reduce fatigue. The social worker of the CF centre could help you explore solutions. Nevertheless, your fatigue should be discussed with your doctor to ensure that it is not due to another cause than CF, which can be accessible to a specific treatment.
Best regards.
Dr Dominique Hubert

25.06.2012