diagnosis-diarrhea

Question

Hello,
Our 18 month old daughter has diarrhea since the middle of June, with a few days of respite but still liquid stools. Our family doctor, after he sent us to a gastroenterologist, who found nothing unusual (analysis of stool, blood, ultrasound) unless an infection (white blood cells and platelets very high), orients us to an allergologist. By phone, he told him this might be cystic fibrosis, but there is nothing abnormal about her lungs. Is it possible?
Thank you for your response, we have an appointment with the allergologist on Thursday 25.
E. K.

Answer

Hello,

Your daughter has probably benefited, like all newborns, from neonatal screening for cystic fibrosis implemented in France since 2002. This screening, done in maternity leads to the diagnosis of the majority of cystic fibrosis patients. However, there are some "false negatives" found later on symptoms.
Diarrhea is a very common symptom for children. The diagnosis of cystic fibrosis could be considered in case of difficulties of growth, fatty stools, or bronchitis; this does not seem to be the case for your daughter.
The mention of this diagnosis has raised an understandable worry, but the risk to see it confirmed seems low.
A sweat test will certainly be proposed routinely, and it should reassure you completely.
Best regards,
Dr Michèle Gérardin

01.09.2011