Shall we do a testing?

Question

Hello, my brother is suffering from CF (lung and pancreas involved). I have an 8-year-old son, who has since birth again and again bronchitis, barking cough, high fever, obstipation, problems with the stomach. He has now his third pneumonia, which is bothering us now for 7 weeks already...! His thriving is absolutely normal (height and weight), he has no clubbing fingers either in contrast to my brother! Would you in spite of this recommend a testing to us? I am asking myself what is going on, as the recurrent bronchitis and severe pneumonias are worrying me!
Best regards and many thanks,
N.

Answer

Hello,
many thanks for your question. In your family, there is without doubt a genetic burden for CF.
Due to the history, in my opinion, further investigation have to be done:
- stool for pancreatic elastase
- deep throat swab
- sweat test *)
- x-ray of the thorax in one plain
The observed clubbing fingers can be typical, lacking does not speak against an underlying CF.
As the sweat test*) will be done assumingly at a CF center, the further steps could be discussed there. In case a CF can be excluded, for sure an inhalative therapy and an intermittend targeted antibiotic therapy will be initiated according to the antibiogram. If the pediatrician regards it to be necessary, the child should be seen from an children's pneumologist.
*) The sweat test should measure the chloride concentration in the sweat via pilocarpine ionotophoresis and should be done at an experienced center. You can find corresponding CF centers near your home on the website of the German patient organisation (Mukoviszidose e.V.: muko.info/forschung/public-reporting.html)

Best regards,
Dr. H.-E. Heuer

06.03.2016