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CF mutations
- Question
- Good evening! I have a baby boy six months old. When he was 3 days old he was operated for ileus due to meconium. The surgery went quiet well and immediately after the baby was tested for cf and two mutations were found (c.621+1G>T/p.G85E). Up to now he is very well and suffers only from pancreatic insufficiency. Are these mutations connected only with pancreatic insufficiency, or with something else as well? Is it severe?
- Answer
- Dear friend,
Your child carries two CF mutations (c.621+1G>T/p.G85E) and has pancreatic insufficiency, which is severe as far as the pancreatic function is concerned.
As far as the lungs are concerned, the mutations do not dictate the course of the disease regarding the pulmonary system and cannot be considered as predictors for the course of the disease.
Yours friendly,
Dr. Stavros Doudounakis - 18.02.2011
