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my 3-year-old daughter has had several anal prolapses. She has quite some mucus in her throat up to 3 weeks after her colds. The sweat test was negative (27 nmol/l for the measurment of conductivity), regular stool elastase (over 500) and 50 mutatios in the test were negative.
The mother and the father suffer from sinusitis every year (mother, father acute and chronic). CFTR-gene sequencing of the father and the sweat test were negative. The 5th test of mutations of the mother was negative. The height of the child is small (the elder sister is even smaller) and the weight is normal. Both suffer from hard constipation. Is CF possible? Thank you
In general one has to think about CF in case of an anal prolapse in children. However, the by you mentioned test results make the illness of CF in case of the child rather improbable. In case all investigations have been done correctly, one can hardly imagine, that the child should suffer from CF. However the 100% exclusion remains to be difficult only based on this information. Indeed one would have to clarify other differential diagnoses of the prolapse.

Best regards,
Olaf Sommerburg

9.11.15 Please notify, that in the question the sweat test is mentioned to have been done by measuring the sweat conductivity. This is not according to the guidelines, where the gold-standard to exclude the illness of CF is the measurement of the chloride concentration in the sweat by pilocarpine ionotophoresis, performed at a certified CF center.

D. d'Alquen