Healthy Carrier

Question

My husband is a healthy career of dF508/non genome. Is he liable to have the same health problems as CF patients but in a less serious form? Can his condition influence his liver function?

Answer

Hello,
Carriers of CF gene mutations are generally speaking healthy individuals and do not suffer from CF. A few studies have been performed to find out, if in carriers of one CF-mutation, any other symptoms are more freuqent than in non-carriers as a reduced function of the protein that is made of the "CFTR-gene" (this is the name of the underlying gene coding for a chloride channel, leading to the illness of CF if there is not enough functioning protein) could be detected in carriers. In summary, based on current knowledge, carriers of one CF-mutation are generally well and deserve their name of "healthy carriers" even if the functioning of their CFTR protein is reduced. They are not at risk of developing severe respiratory impairment. However, slight respiratory or ENT symptoms might be a little more frequent. Liver impairment has not been described - given that the person in question is really only a carrier and doesn´t have the other mutation (or that they have normal chloride concentration in their sweat).
If you are planning to start a family, it is necessary for you to undergo a test which will rule out your possibly carrying a CF mutation, too.

Dr. J. Brázová and Dr. D. d'Alquen

13.12.2011