Sweat test and elastase activity and genetic is negative

Question

Hello,
I have a daughter who is 6 years old and another girl who is 4 years old.
The 6-year-old girl has chronic constipation and two hernias (one in the inguinal area and the other in the abdomen). She is growing slowly.
The little girl of 4 years had some rectal prolapses. Her sweat test and elastase activity and genetic investigation are negative. Normal weight, however she is not tall. Normal mucus and infections of the airways. Are you of the opinion that we should have investigated more? Thank you.

Answer

Hello,
you report, that you have two daughters at the age of 6 and 4. One daughter has chronic constipation and additionally two hernias. The 4-year-old daughter has had several times an anal prolapse and therefore has had a sweat test, pancreatic elastase measurement and a genetic investigation for CF, that was all negative. You ask, if further investigations would be necessary in order to rule out CF.
In conclusion it can be said, that both children seem to have constipation. Besides the illness of CF, constipation is the typical reason for a rectum prolapse. Further diagnostic in the direction of CF does not seem to make sense, as CF children, who are pancreatic sufficient, do not have a rectal prolapse. A chronic constipation can well be the reason for a loss of appetite and therefore also result in an insufficient weight gain.
Therefore it is very important to consult a children’s gastro-enterologist, who develops a therapeutical concept with you, that aims at a normal stool behavior of your children.
Best regards,
Dr. H.-G. Posselt

20.06.2016