CF_2

Question

My son is almost one year old now. When he was three months old, a test showed that he has a high level of chorides in his sweat. Since then we have gone to medical every month but my son hasn´t been ill yet and he doesn´t even cough. His genetics test confirmed that he has CF but I didn´t get any explanation about his condition. Does my son have a milder form of the disease? If so, what does it mean for us, his parents? So far I have been administering Creon to him. He takes Vigantol in his milk, as well as vitamin E. We also have N-acetyl-cystein in case he coughs, but he hasn´t done the inhalation yet.

Answer

Hello,
We practically cannot answer your question, as we don´t know the following:
 how high the chloride level in your son´s sweat was
 if the test was carried out with enough amount of sweat, and
 if the laboratory which carried the test out does at least 200 sweat tests a year and therefore has relevant experience with it.
If we are to answer your question properly, we also need to know the exact assessment of mutations found during the genetics test. There are two groups of mutations. Within the first group so-called “serious mutations” (class I-III) which are usually connected with insufficient external pancreatic secretion and patient´s failure to thrive. Within the second group (class IV-V) mutations are usually associated with a sufficient function of the pancreas and also airway symptoms are milder.
However, in general, it is important to stress that the genotype of a certain patient (his underlying CFTR-mutations) is not suitable for making an individual prognosis, as the individual prognosis of a CF patient does not only depend on the underlying mutations but also on other genetic and environmental factors, especially on the initiated therapy and its adherence to it. From the above, it becomes clear, that apart from the “classical” clinical picture of CF with early failure to thrive, fatty stools and lung disease, there are many other pictures possible, a later onset or a milder course with sufficiency of the pancreas and milder lung disease due to underlying mutations and other factors. Even onset of symptoms only in adulthood and minimal symptoms do occur and are named “CFTR-related disorders”. But even if the underlying mutations would speak for a rather "classical type" of disease, early diagnosed children could be free of symptoms (mostly free of pulmonary symptoms) for quite a long time. From afar, without knowing details like the level of elastase - 1 in your son´s stool, we are not able to comment on the severity of his disease, so it is most important that you are monitored at a specialzed CF-center who monitor and treat the function of the pancreas and the lung disease.
We do apologise, but we cannot answer your questions sufficiently without this information.
Dr. V. Vavrova and Dr. D. d'Alquen

22.11.2011