CF with 30 years

Question

Dear expert team,

I am 30 years old. As a child, I had permanent airway infections, that had to be treated frequently with antibiotics. According to my mother, I have had a CF test 3 times. This would have been 2 times borderline. Unfortunately I have no values.
Today I still suffer from frequent airway infections. A few months ago, I had a severe pneumonia for the first time. I am 1,67 tall and weigh 52 kg, however I eat very much. I eat healthy food, do a lot of sports and have 2 children.
Could I possibly suffer from CF even if it has not been diagnosed in my childhood? And if yes, how probable is it?

Many thanks for your answer.

Answer

Dear questioner,

you want to know, if you suffer from CF. How probable is it that you have CF? How could this illness be diagnosed?
Symptoms, that you report on your illness, could fit for many lung diseases or are only an expression of an increased perception for infections, that have not necessarily to be caused by another underlying disease.
According to the information you give us, and even more via the Internet, we are not able to make a diagnosis and can not make a statistical probability for CF in your case, either.
In case one would investigate for CF in your case, the performance of a sweat test in a ceritfied CF Center would be the first step. After this, it can be decided on further investigations: genetic investigation, a measurement of the nasal potential difference (NPD) and/or a intestinal current measurement (ICM, ussing chamber).
In connection with your request, I can point to the guidelines for the diagnosis of CF. This is a S2-consensus guideline "Diagnosis of CF" (German AWMF 026-023; in German) under the leadership of the society for pediatric pulmonology dated 06/2013. On page 20 of the guideline there is an algorithm for the procedure in case of clinical suspicion for CF.

In the comment on the algorithm it can be read:
"In case of clinical suspicion of CF, the sweat test is the first line of the diagnostic algorithm. In case of sweat chloride ≥ 30 mmol/l or a sweat conductivity ≥ 50 mmol/, respectively in case the sweat test could not be performed successfully or in case of - if available - positive newborn screening, further diagnostics should be done at a CF center.
In case the sweat chloride value is between 30-59 mmol/l, a CFTR genetic investigation, a NPD and/or an ICM are necessary. The investigation of the most frequent CFTR mutations should be done as the next following investigation due to the good availability and the fast results obtained. In exceptional cases a complete investiagtion of the CFTR gene can be sensible without a preceeding investigation of the most frequent mutations, if otherwise due to the ethnic origin of the patient the detection rate is expected to be very low. In case of lacking confirmation of the diagnosis the next steps would be the CFTR complete analysis and the electro-physiological investiagtions NPD and/or ICM. The order of performance depend on the availability of the methods. A complete analysis of the CFTR gene should also be done in case of patients with a normal electrophysiological investiagtion, as in single cases patients have been described with two illness causing mutations in spite of a normal electrophysiological investiagtion. Conversely, patients, who did not show two illness cauing muations in the complete analysis of the CFTR gene, should undergo electrophysiological investiagtions. For the algorithm in case of CFTR-associated diseases we point to the differentiating algorithms in the Euroepan Consensus document".

I hope to have helped you with my remarks and stay with my best regards,
Dr. med. Christina Smaczny

26.07.2015