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Effects of atypic CF F508del/p.Thr582Ile

Question
Dear expert team,
I am 20 years old and a few years ago, the above mentioned mutation has been found, however the physicians were not able to give me a real prognosis.
My sweat test was inbetween normal and pathologic.
The mutation had been found after I had several pancreatitis episodes, however several anatomical anomalies had been found to be the reason for it (among others narrowing of the ductus and a pancreas divisum) and after an operation I had no symtoms anymore.
All my lung function test had been normal so far and until now I did not have any problems with mucus in the lungs or problems to breathe, even when I had a cold that was not a problem for me.
I would be interested if there is any information about this mutation.
Best regards,
Answer
Dear questioner,
there is nothing new, that you do not know already.
Both CFTR genes, that you inherited from your parents, carry each one mutation: one is the well known F508del, the other the very rare muation Thr582Ile.
CF occurs, only when both genes are defect. F508 del is frequent, therefore the doctors know, that F508del means CF. However: in combintaion the CFTR genotype F508del/Thr582Ile is judged to be a "CFTR genotype with variable consequences", that means together they can cause an atypical form of CF.
Seldom means for Thr582Ile that only one case (in France) is described in the CF-databases. This French case does not carry F508del on the other gene and has also been judged as an "atypical CF": the person had already been retired when the CFTR-variant Thr582Ile was found and his sweat test were elevated.
This means that even in 2019 nobody can make a prognosis on the mentioned mutation combination.
Best regards,
Frauke Stanke



24.10.2019