Diagnosis of CF?

Question

I am 54 years old. I suffer for about 12 years from the following chronic diseases without a detectable reason:
pancreatitis, diarrhea, sinusitis and frequent infections like bronchitis, and atypical pneumonias. Even in case of severe cough I cannot cough it up. Two years ago bronchiectases had been diagnosed. In spite of this, the sweat test was negative.
Is it neverthe less possible, that it deals with CF? (I do not drink any alcohol and do not smoke).

Answer

Hello,
there are indeed pictures of illnesses, that resemble the picture of CF, without a CF underlying. We have just learned about bronchiectases, that a treatment like in case of CF shows very much success. Even if one can understand, that one wants to have security, why the constellation is so similar, this has ín most cases no practical consequences: the treatment is almost always symptomatically, i.e. in the end not specific.
Best regards,
Prof. Dr. TOF Wagner

06.10.2014

6.10.14
On the other hand, it cannot be excluded with 100% security, that a CF or a CFTR-related disorder might be underlying in case of the mentioned symptoms. The sweat test is the gold standard to make the diganosis of CF, however, it is important that is done in a standardized manner in a certified center in order to be reliable. If the sweat test is negative, CF in unlikely, however, patients with 2 CF-causing mutations and a negative sweat test are described. Therefore, if the clinical symptoms speak for a possible underlying CF, other diagnostic measures (mutation analysis for mutations in the CFTR gene, micorbiological investiagtions, x-ray, pancreatic function test and/or functional testing of the chloride channel that is involved in CF via measurment of e.g. the nasal potential difference in specialized centers) could be initiated to clarify the situation.
It remains to mention, that between CF (classical/severe and milder form) and non-CF there are forms of the illness called "CFTR-related disorders", that are characterized by an intermediate sweat test result and CFTR mutations underlying, that allow a residual function of the chloride channel. Those forms are sometimes only diagnosed at adult age when symptoms aggravate.
As mentioned above, the most important thing is however a good clinical follow-up and treatment in order to keep the health status as good as possible.
Dr. D. d'Alquen