CF possible?

Question

Is it possible, and I am not expecting a diagnosis, that a 13-year-old girl without pulmonary symptoms, but with two instances of pancreatitis (salt content measurement of 62 mmol/l and 72 mmol/l, respectively) has cystic fibrosis?

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Thanks.

Answer

Hello,

this question can be answered with a "yes," since cystic fibrosis does not only occur in its typical form. As has been known for quite some time, there are a number of atypical and mild forms that cannot be detected clinically in patients for a while and can then occur the way you are describing it. At this point, it is important that experts at a certified CF clinic will continue the diagnostics in case genetic proof cannot be obtained immediately through the usual molecular genetic methods. If the result would be a CF diagnosis, the patient should be looked after at a certified CF center even in case of a mild form and even if less therapy will be necessary compared to classic CF.

Yours sincerely,
Dr. Sommerburg
[Translator's comment: information that is only of local relevance has been omitted from the translation.]

13.09.2010