Sweat test

Question

I have a premature baby girl, with a gestation period of 28 weeks and birth weight of 600 gr. Today she is 13 months old and weighs 5,2 kgr and is allergic to cow milk and has gastro-oesophageal reflux. She gains round 250 gr per month. The pediatrician recommended a sweat test to rule out CF. I was tested negative for the DF508 mutation, I did amniocentesis and the baby was tested in the ICU for CF with negative results. I am very anxious and I would like to know what you think. I forgot to tell you that the symptoms due to the bronchopulmonary dysplasia have vanished now. The baby was in the premature ICU for five months.

Answer

Dear friend,
You have a 13 months old toddler with body weight 5.2 kgr, which was born after a 28 months gestation period with birth weight 600 gr. The baby was hospitalized in the premature ICU for 5 months. She is allergic to cow milk and has gastro-oesophageal reflux. Due to the non satisfactory weight gain your pediatrician recommended a check for CF.
Dear friend, a neonate with CF should have large, fatty and smelly feces and not gain weight, that are symptoms of pancreatic insufficiency, which is tested through the fecal trypsin.
Personally, based on the above medical history of the child, I believe that she does not have CF. Furthermore, the neonate screening for CF was negative and you write that you were tested with negative results for the DF508 mutation.
I cannot see any reason that you should be worried about the CF probability, but you must follow the instructions of your pediatrician. You can contact me on the phone at the CF Center of Aghia Sofia Hospital, or you can make an appointment for a fecal trypsin or fecal elastase test, through which we can rule out the possibility of pancreatic insufficiency.

Yours friendly,
Dr. Stavros Doudounakis

17.12.2013