Ichtyosis and CF

Question

Son suffers from ichtyosis, sweat test could not be performed, nasal test either. Genetic test has been done, however no gene has been found. Result has been provided with a question mark. Son has also diabetes 1 and celiac disease (biopsy), additionally lack of IgA and lactose-fructose intolerance (breathing test), he is underweight.
CF is mentioned in almost all reports, especially as he has had as an infant pneumonias, permanent spastic bronchitis, as well as pertussis, he has "taken" all childhood diseases.
At meals he takes enzymes, without, his digestive problems are even bigger (fatty stool etc.).
Pancreatic insufficiency has not been detected during an investigation of the stool.
In spite of this, is there the possiblity of having CF?

Answer

Hello,
you report that your son suffers from ichtyosis and that he has been diagnosed to have additionally a diabetes type I, a celiac disease, a lack of IgA as well as a lactose- and fructose malabsorption. Due to pneumonia as a toddler and spastic bronchitis he has been investigated for CF.
Sweat tests and nasal-potential difference measurements were not successful due to the skin alterations. At the genotype analysis, no CF-typical mutations have been found. You report that your son is underweight and that he takes pancreatic enzymes in spite of the fact that a pancreatic insufficiency had been excluded via investigation of the stool.
You ask now, if it would be possible that your son could still suffer from CF.
The following remarks can be made on the situation of your son that seems to be quite complicated.
I assume that the pancreatic insufficiency has been ruled out based on the finding of a normal elastase I in the stool. Furthermore, it seems that the group of the most frequent 39 (?) CF-mutations have been tested at the genetic analysis and hereby no CF-typical mutations have been found?
Furthermore you report that your son had lung problems as a toddler, that in the mean time do not exist anymore?
The underlying results make the illness of CF admittedly very improbable, however do not exclude it, last security could only be provided by an investigation of the intestinal current measurment (ICM) of the rectal mucosa or a complete sequencing of the CF-gene. The complete sequencing of the CF-gene is very expensive. Before the investigation, the coverage of the costs has to be clarified with the insurance. The ICM from the rectal mucosa is only performed by a few special departments in Germany. You should therefore discuss the procedure with the physicians of a CF-center near your home.
Due to the complicated nutritional situation and the underweight of your son, regular controls at a special department for paediatric gastroenterology are still necessary, in case they are not already done.
We wish you and your son all the best.
Yours sincerely,
Dr. H.-G. Posselt

21.10.2013