Diagnosis? Addition!

Question

My grandson has the following result of the genetic tetsing: heterozygous TG10/TG12 and heterozygous for the 5T variant IVS8:TG12-5T/TG10-7T in the poly pyrimidin-tract. We have been told that a CF could be excluded to 90%. However, what about the meconium plug at the beginning and then about the 3 weeks of ileus? The little one has been 2 months old yesterday and is again in the hospital. Do you advise us to go to a specialized clinic? Stool release is still a bit difficult. It has become a bit better after Kreon®.
The pancreatic elastase has been tested 4 times and was normal all the times, as well as 3 sweat tests have been normal. Can a CF now be excluded?
Thank you very much.

Answer

Hello,
your addition is related to the question "diagnosis?" from 4.11.13.

ecorn-cf.eu/index.php?id=65&L=8&tx_expertadvice_pi1[showitem]=2670&tx_expertadvice_pi1[search]=


We have given your question to Dr. Posselt, who completes the answer from the standpoint of a physician as follows:
" Hello,
You report in your original question about a meconium plug syndrome and about an ileus at the age of 3 weeks. In order to be able to answer your question comprehensively and adapted to the siutation, we still need the following amendmend. Due to the meconium plug syndrome, has an operation of the abdominal cavity been performed in order to get the meconium going manually or did the release of meconium and stool get started spontaneously e.g. after irrigations? Due to the ileus at the age of 3 weeks a laparotomy had for sure been necessary? Probably you could give us some more information about this in a further addition.
The following I would like to say right now:
As a cause of the meconium plug syndrome other illnesses besides CF come into account. These have to be ruled out in a specialized center, where pediatric surgeons and also especially pediatric gastro-enterologists care for your grandchild.
The fact that your grandchild had several normal values for the elastase I and therefore the function of the pancreas is normal, rathers indicates that there is no CF underlying. According to my own experience, in CF patients a meconium ileus or meconium plug syndrome is only happening, if also a pancreatic insufficiency is present.
Therefore the reverse is permitted:
"As there is a pancreatic sufficiency, CF cannot be the cause for the meconium plug." With the highest probability, your grandchild does not suffer from CF!
This interpretation is supported by the sweat test that has been negative 3 times.
Due to the pancreatic sufficiency, Kreon® should not be used. In case the pancreas works normally, then an additional substitution with enzymes is unnecessary and can even lead to obstipation.
At the moment, therefore, everything has to be done, that your grandchild is cared for in a specialized hospital, where pediatric surgeons and pediatric gastro-enterologists work closely together.
When your grandchild has recovered well from the actual problems, the parents should present at a CF center in case the question of CF still worries them, in order to exclude a CF for sure with ongoing investigations.
Yours sincerely,
Dr. H.-G. Posselt

20.11.2013