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Please note: While some information will still be current in a year, other information may already be out of date in three months time. If you are in any doubt, please feel free to ask.

Health risks in CF carriers (only 1 altered allele)

Frage
What changes/risks do CF carriers face?
This question is based on the following statements:
CF patient education: "Even in carriers, the chloride channels don't function quite correctly."

Internist: Preventive colonoscopy should be performed every 5 years instead of every 10 years in CF carriers, even with completely normal colonoscopy results. Reason: increased risk of intestinal polyps and their malignant transformation.

Thank you for your response.
Antwort
Good day,

Yes, that's correct. In CF carriers, CFTR function can be slightly impaired, which can be measured, for example, in a sweat test.

It's often somewhat higher than in people without the defective allele (i.e., both chromosomes are unmutated), but still within the normal range.

How well the CFTR channel functions also depends on the second allele (second chromosome).

Therefore, the internist's recommendation is certainly sensible as a precaution.

Best regards,
Fischer
12.10.2026