Prescription of Creon without clear diagnosis of CF

Question

Dear expert team,
my son (2.5 months) is in hospital since birth. He has had a permeable small bowel and birth has therefore been induced in the 32nd week of pregnancy. Since birth we have been told by the doctors, that our child might suffer from CF, however no test has been performed yet unfortunately (nor a sweat test, nor a genetic test) and therefore a clear confirmation have not been given.
Since today our child gets Creon (8x1 spoon per day), which is according to the leaflet given only to patients with CF, as he has an extremly distended abdomen since the last bowel operation.
Now to my question: can this drug also harm in case he does not have CF? I feel that it is no right to give such a drug without a clear diagnosis.

Answer

Hello,
You report that your child has been delivered pretem in the 32nd week of pregnancy due to a "permeable" small bowel (I assume that you mean a perforation of the bowel or an ileus - probably a meconium ileus). The doctors have said to you that your child might suffer from CF. Furthermore you report, that your child gets now daily 8 x 1 spoon of Creon, as he suffers from a distended abomen since the last bowel operation.
You report furthermore, that until now no clear diagnosis has been made, as either a sweat test nor a genetic test has been performed. You are worried, that the treatment with Creon could harm your child, in case it would probably not suffer from CF.
As your child has been deliverd in the 32nd week of pregnancy and then operative intervention on the bowel had been necessary, the actual weight of your child lies probably still under or about 3 kg. Probably a sweat test has not yet been performed due to the preterm birth (your child is in absoulte terms only 2 weeks old) and due to the low body weight. A genetic investigation is in general performed in case the diagnosis of CF can not be confirmed by other measures or in order to do a genetic counselling on the family. The genetic analysis needs in general 3-4 weeks time. At the moment it is of course a very large burden for you. On the one hand you are worrying about your small child, that has been operated just after birth. On the other hand the suspicion of a severe disease has been spoken out, without being able to give you certainty in regard of the suspicion of CF.
You should talk to your doctors in charge for which point in time the sweat test has been planned. Hereby the question arises, if your child lies in a children's surgery or children's hospital, as only pediatricians can perform the sweat test.
The question if your child needs Creon or not, can be clarified independently of the sweat test. Please ask the treating physicians, to do a stool test for Elastase-I to your child. Only if this test indicates that there is a hypofunction of the pancreas, the treatment with Creon is justified.
To the dosage of Creon it can be said, that in case of a nutrition with bottle milk about 500 to 1000 units lipase per gram nutritional fat are needed for an effective treatment. In general an upper limit of dosage is named with 10.000 units lipase per kg body weight and day. According to your information your child gets 8 x 1 spoon of creon. That is similar to 8 x 5.000 units of lipase = 40.000 units.
As I assume that your child does not weigh 4 kg, the dosage should be reduced a bit. Overall it can be said, that Creon (therefore all enzymes of the pancreas) is a well-tolerated drug, so that in case of unnecessary intake over a limited timespan, side-effects do not have to be expected.
Ask your docotors in general if they have already got in contact with a CF-center because of your child.
I hope that we were able to help you a bit with this difficult situation and wish you and your child much luck in these hard days.
Yours sincerely,
Dr. H.-G. Posselt

20.01.2011

24.1.2011 Concerning the indication of a genetic testing in making the diagnosis of CF:
It has to been taken into account, that lately new medications are in clinical testing phases (such as PTC124 for example), which aim at correcting the underlying CFTR-mutation. So in order to find out, if a patien could profit from such drugs, the underlying mutation has to be known. This is probably an additional reason, why some of the latest guidelines recommend the routine performance of a genetic test (in child and parents), even if such a test is not necessary to make the diagnosis itself if clinic and sweat test are positive.
D. d'Alquen