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mutation delF508 / R553X

Question
My son (8 years old) suffers for years from gastrointestinal problems. For him as a CF patient, lung problems are not the main focus. He has already had an ileus 2 times (as a consequence resection of 50 cm of the gut), furthermore an exocrine pancreatic insufficiency, an enlargement of the spleen as well as a CF hepatopathy have been diagnosed. Now they recommend to us to have our son put on the list for liver transplantation.
We are urgently looking for advice on his specific mutation. Are there in Germany any CF specialists, who have special knowledge about this mutations respectively about this special picture of the illness?
Answer
Hello,
you report that your son (genotype delF508 / R553X) has massive problems concerning the gastrointestinal tract and that already two times an operation had been necessary due to an ileus, whereby 50cm of gut had to be resected. Lung problems would not be in the foreground. Your son had a pancreatic insufficiency as well as a CF- hepatopathy with enlargement of the spleen. Because of the liver disease you had been recommended to have your son listed for liver transplantation.
You ask, if there are CF specialists in Germany, who are well familiar with the specific mutations of your son and the resulting picture of the illness.
About the mutations of your son it can be said, that it deals with a combination of the most frequent mutation delF508 with another so-called frequent mutation (R553X: allel prevalence 1.7% in Germany) of the mid-European population. In case of the underlying combination one has to envisage the classical course of the illness, i.e. with pancreatic insufficiency and pulmonary involvement. It is not known, that one of both mutations or the combination leads in an increased measure to changes of the liver in case of CF. We do not know the exact course of the illness of your son, so that we are only able to make general statements about the liver disease. You are welcome however, to provide us with further information.
Today it is assumed, that so-called modifying genes, the individual course of the illness, quality of therapy and environmental factors decide if a severe liver disease occurs.
Due to the underlying health situation of your son it seems very important to us, that the necessity of an evaluation for liver transplantation is reviewed by a CF-experienced pediatric gastro-enterologist and that you are transferred to a transplantation center that has extended experience in the therapy of CF patients.
We wish you and especially your son much luck and all the best.
Yours sincerely,
Dr. H.-G. Posselt
28.04.2014