CF possible?

Question

My son is now three years old. Since infancy and still today, he has been having problems with recurring bronchitis and croup attacks. Suspicions have ranged from asthma to allergies etc., but so far nobody has been able to really help us.

Additionally, he has been having constant diarrhea since he was one year old whose cause could not be determined. Therefore he is much smaller than his peers and was also underweight until recently. He has been on a high-calorie diet for six months and has gained 1.5 kg.

Stool tests showed too many excreted fats.

Now we are wondering whether it could possibly be CF.

However, is that not tested during neonatal screening?

Answer

Hello,

You are saying that your three-year-old son has been having recurring bronchitis and croup attacks from infancy until now, and that he has also been suffering from continuous, unclear diarrhea. He excretes too much fat in his stool. He hardly gained weight for some time and is smaller than his peers. You are asking if the neonatal screening included testing for CF. [Translator’s comment: the following part applies only to Germany: Only very few federal states – Saxonia, parts of Baden-Wuerttemberg – routinely include CF in the neonatal screening. CF patients whose pancreatic function was still normal at birth are not detected in the screening in the way it is currently done.]

Judging from the symptoms you are mentioning, your son should have a sweat test done on all accounts in order to clarify whether he has CF or to rule it out. Of course, it is possible that your son only suffers from atypical croup attacks and that he might be an allergic. Because of the diarrhea and the increased stool fat excretion, the stool should be tested for elastase I in order to check the pancreatic function. If this test is normal, you should look for food allergies and also check for celiac disease.

We wish you and your son all the best,
Dr. H.-G. Posselt

28.02.2012