Course of borderline-CF

Question

Dear expert team,
for just another time I have a question for you:
My daughter, nearly 5, mutations R116X/R1048G did up to now have only slight problems with her CF. This winter she has had infections more often, which had to be treated with altogether 6 antibiotic therapies.
At the half-year check it has been said to us, that we have now to start with the physiotherapy in the end and she has to undergo an antibiotic therapy for 2 months.
Up to now "only" her lung is involved. Now the question comes to me if I have to fear that sometime her pancreas could also be involved!?!
It has however been said to us, that our daughter is a so-called borderline case. Now it seems not to be like that anymore.
I am a bit insecured, how to cope with the new situation. Does it mean that her state of health can worsen the same as in all other patients with CF?
Many thanks for your answer.

Answer

Dear questioner,
in the CF-mutation database (Toronto, Canada) there is written the following:
"The change was found in the asymptomatic husband of a CF carrier (sister of a CF patient). The couple, origin from Germany, have a daughter (1 y) R1162X/R1048G with a negative sweat chloride test, further clinical information is not available. "
At that time (2006) there was no further secure information on the clinical course of this mutation.
In general, a prophylactic therapy, which is orientated to the course can be recommended in case of an unclear meaning of a constellation of a mutation. The state of the pancreas is in general stable over years (decades) after the first years of life. The course of the illness of the single person with CF is either not for sure predictable in very frequent constellations of mutations such as e.g. F508del homozygous, because of the other factors (modulators of the CF, which lay outside the CF-mutation), influencing the course of the illness.

Best regrads,
M. Ballmann

30.06.2009