carrier

Question

Is it true that if you are a carrier of the CF-mutation, you are more prone to get certain infections and you need to follow a treatment program?

Answer

Dear questioner,
Thank you for this important question to which the answer is clearly ‘no’. Carriers of the CF-mutation are healthy and they don’t need any treatment whatsoever. Because carrier status of a CFTR mutation is rather frequent (even up to 1/25 in some populations) , there are even theories that carriers would be more resistant to certain diseases. You can read more about this in the question about cholera.
Of course carrying a CF-mutation is not a guarantee that you will be healthy. A carrier of a CF-mutation can have a medical problem that requires a specific diagnosis and treatment. Furthermore, if a carrier has symptoms that are suggestive for cystic fibrosis (for instance chronic infections of the airway with specific bacteria or inflammation of the pancreas or infertility in the male) it can be necessary to do more specific tests to be certain that that person does not carry a second mutation and does not have CF. These tests include examining the whole CF gene or doing a nasal PD test. You can read more about this topic in the questions on diagnosis. Many greetings.
Prof. Kris de Boeck

18.05.2009