Also CF?

Question

My daughter is 14 years old, and physically disabled (exstrophy of the cloacae). In the last years she has had many pneumonias, often bronchitis, problems with diarrhoe...In the mean time she has been diagnosed with: extreme short stature, asthma, celiac disease (not approved via investigation of the bowel), furhtermore difficult feeding because of FI, LI, [the translator did not know what that two abbreviations mean], problems in digestion of fat (but: child because of diverse operations of the abomden near to a short-bowel syndrome), chronic sinusitis, malnourishment, scoliosis, need of oxygen at night because of dips of the saturation due to periodic breathing, delayed puberty...
Now a sweat test should be done to her soon. My question: is it really possible in case of a mild course of the illness, that CF is not recognised in a regularly observed 14-year-old child by childrens'surgeonts / pulmonologists/ endocrinologist and other physicians, in spite of regularly performed thorax x-rays, blood-/ stool investigations?
Many thanks for the answer

Answer

Hello,

in general the question has to be answered with "yes", because even with all caution it still does happen, that patients are diagnosed really very late. There are a few different genetic defects, which can lead to CF. In different combinations these can therefore cause very different pictures of the illness, so that we today know besides the classical CF more milder courses. At some of these milder courses the full picture of the illness does however then develop after some years. The by you described symptoms do lead the doctor in charge to several differential diagnoses, which have now to be clarified. CF does belong to this group without doubt and should be ruled out via one or in case of doubt via several sweat tests. From this point of view the procedure is quite correct.

Yours sincerely,
Dr. O. Sommerburg

09.11.2009