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mutations G542x/F508del
- Question
- Good evening! My daughter carries the mutations G542x/F508del. Is she a "severe case" of CF?
Thank you - Answer
- Dear friend,
Both are frequent mutations.
They are considered severe in regard to the pancreatic function. For this reason your daughter will have pancreatic insufficiency and will have to take pancreatic enzymes.
In regard to her pulmonary function, the prognosis is not solely determined by the type of the mutations, but mostly by external factors, like regular monitoring in a CF center, systematic physiotherapy and antibiotic therapy according to the instructions of your doctor.
Yours friendly,
Dr. Stavros Doudounakis - 27.10.2011
