Atypical from of CF

Question

Hello,
I am 35 years old and in the frame of an genetic investigation it came out that I am a carrier of CF. When I was a baby, I had a strong pneumonia. I suffer from allergic asthma and have slight clubbing of the fingers. A recently performed sweat test had a result of 42 (control area).
In the department of pulmonology (of a German university hospital) a lung function test had been performed. The result was without pathological findings (98%). The blood values had no pathological findings, either. Now, an ultrasound of the upper abdomen and a lung CT are planned just to be on the safe side. As I am in general free of symptoms, an atypical form of CF could be underlying. At the moment, a full sequencing of the genetic is done.
My question:which further treatment would you recommend and what should I pay attention to the next years?

Answer

Dear questioner,
according to the content of your question, we assume that you also asked the question "CT of the lung appropriate?" from the 2.1.14, and therefore we point first of all on our first answer before you read the actual one. Link: ecorn-cf.eu/index.php?id=65&L=8&tx_expertadvice_pi1%5Bshowitem%5D=2807&tx_expertadvice_pi1%5Bsearch%5D=

With the actual question you want to know which kind of treatment is necessary in your case and what you should pay attention to the next years.
From your question it can be concluded that you suffer from bronchial asthma and the diagnosis of CF could not be confirmed in your case so far. An atypical CF can not be excluded, however, seems to be rather improbable. You write, that a full sequencing of the genetic has been done and that the result is still underway. This result should be waited for and as I already wrote in the first answer, in case an "atypical"CF is suspected with missing confirming genetics, a normal sweat test but other hints on the illness are there, the diagnosis can be made via an NPD (nasal potential difference) measurment and /or an ICM (intestinal current measurement). Both investigations however are only done in the frame of scientific questions and not covered by the insurances. In Germany, however, there are a few centers which offer both measurements.
On the question about a further treatment it can be said, that this has to be adapted to the actual complaints and results.
Only after a confirmation of the diagnosis the question can be answered what you should pay attention to in the future.
Yours sincerely,
Dr. med. Christina Smaczny

11.02.2014