CF excluded?

Question

Dear expert team,
my daughter is 8 years old, since at least 5 years she has again and again strong bronchitis, now in the last year three times pneumonia. In general, she is very often ill, always with much mucus. Also she has chronic inflammation of the sinuses and also nasal polyps, that have been operated once, however recoccurred fast. She also has at least for five years problems with the digestion, initially often obstipation, now the stool is rather smooth, mushy and somehow oily, shiny, it also swims on the surface in the toilet and it smells very uncomfortably. She is often complaining about stomach ache and has then large volumes of stool. In case she vomits, food comes out partly undigested. She vomits frequently just only mucus, also in the mornings before eating. After that she is fit again, as nothing has happened.
She is coughing partly extremely, especially at night. If she is ill, we can control the situation only with codein drops, otherwise she is getting no sleep at all.
She is 1.28m high and weighs 24kg. I am 1.72 m high and weigh 65kg, the father 1.85m and 80kg.
Unfortunately I did not get a written result of the lung function test to take home, the physician said she is blowing well at the beginning and gets worse and worse, then. With salbutamol it was a bit better, however not satisfying. On the x-ray of the thorax it could be seen, that she already had several inflammations and something could be seen like many white shadows and a kind of ramifications. Unfortunately I cannot write more about this, as I did not get a result.
Sweat tests: 1.: 52mmol, 2.: 25 mmol, 3.: 32 mmol, 4.: 33 mmol (the last two had again been done at a CF center)
The stool is being investigated for pancreatic elastase I, however, there is no result, yet.
A genetic investigation has not been initiated, and apart from that nothing else until now, we are still hanging in the air.
Something is wrong with her and I just want to know what’s going on. She is always suffering so much when she is ill, so that I do not let her go to school if many people are ill, as I fear, she is going to get infected.
Can I depart now CF with good conscious? She is just showing so typical symptoms. However since she inhales, she is doing better.
Best regards,

Answer

Hello,
the diagnosis of CF is a clinical diagnosis, i.e. how do the phyiscal complaints present? Cough, sputum, cough at night, somatogram (weight, weight correlated to length, length, body mass index), thorax x-ray?
The mentioned clinical symptoms are compatible with the diagnosis of CF, however just the for the diagnosis often very important sweat test remains here in the borderline area.
Prof. Kaiser did in the 80ties in Berlin 15.000 sweat tests. Chloride values under 30 mmol/l excluded to a high extent CF. Prof. Levison (Topronto) reported single cases, in which a CF was underlying with a normal sweat test. Seldom!
Indeed a CT scan of the thorax has to be considered in your case, in order to find potential bronchiectasis.
Furthermore, one can confirm the diagnosis with the help of genotype analysis, the nasal/rectal potential difference measurement (e.g. Dr. Derichs Charité, Berlin). The lung function diagnostic can be helpful.
At first, I would do a genetic analysis, then a measurement of the potential difference.
It would be good, if the described investigations could be done to clarify and at least to relieve the situation.
In any case please contact again your CF center or your pediatrician, in order to discuss the further diagnostic procedure. If necessary, an evaluation in hospital is necessary. Then, hopefully one can dehort the diagnosis of CF finally with good conscience.
There are also differential diagnosis one has to think of, e.g. Shwachmann syndrome, celiac disease. Please discuss all this with your CF center.
I am interested in the further results and stay with best regards and the hope of a greater diagnostic security for your daughter,
Dr. H.-E. Heuer

12.05.2014