Asymptomatic patient

Question

Hello,
is it common that a CF patient has neither infections nor bronchial congestion?
Our son 16 months is completely asymptomatic since birth.
Furthermore, is the identification of genetic mutations 100% reliable?
Thank you.
Best wishes

Answer

Hello,

The identification of mutations in the cystic fibrosis gene (CFTR) is reliable if it is performed in a qualified laboratory of genetics. Human error for sample identification remains theoretically possible but procedures implemented in these laboratories make this type of error exceptional.
Symptoms of the disease and its evolution are unique for each individual and depends on many factors:
- Either genetic (depending on the CFTR gene but also on other so-called modifier genes since that may change to more or less the expression of the CFTR gene);
- Or environmental (pollution, lifestyle, access to care, quality of care ...)

Has your boy no symptoms or light symptoms, clinical or biological? I can only advise you to get in touch with the doctor of the CF Centre in charge of your boy, and particularly ask him if your son was blood sampled for studying the modifier genes.

Anyway, one cannot but welcome the good health of your child. It is a valuable asset that must be preserved by a healthy lifestyle and adequate monitoring.

Hope this answer can help.
Best wishes

Gilles RAULT, MD, Roscoff CF Center

18.04.2016