G542X & 2183AA mutations

Question

I have an 8 months old baby with CF with the above mutations. What can I expect in the future from these mutations? From what I read on the Internet i am scared, but my baby looks just a normal one. When do the problems begin?

Answer

Dear questioner,
The illness of CF occurs due to a dysfunction of a chloride channel in the cell membrane because of mutations in the endcoding CFTR-gene. According to the way, those mutations affect the chloride channel, they are distributed into 5 classes. If a patient, like your child here, carries two mutations which belong to class I-III (this is called "the patient is homozygous" for class I-III mutations), it is likely that the patient will show the "typical picture" of CF with insufficiency of the pancreas. The mutation is however not a useful predictor of the lung disease, but lung disease tend to be more severe in case of class I-III mutations compared to class IV-V mutations. If at least one of the patient's mutations belongs to class IV-V, this is usually associted pancreatic sufficiency and often milder lung disease. However, it has clearly to be stated, that the clinical picture of an individual with CF is not only affected by the mutations that the patient carries but also by other genetic and environmental factors. So even if the mutations give us some information about a rough direction of the disease they are not usefull to predict the onset of symptoms or the clinical course, which can be very different even in patients with the exact same mutations.
So what is most important for you is a good care of your child in an experienced center to give your child the best premises for an improvement of the clinical course.

Dr. Daniela d'Alquen

25.10.2011