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Disease outbreak at 41?
- Question
- Hello,
I am an F508 carrier, but always thought that aplasia of the regenerative organs was my only impairment. For six weeks now, I have been having a continuous cough and have been noticing a kind of “gargeling” sound in the lungs in the mornings during the first deep breaths, which then disappears. Is it really possible that the CF with its associated lung problems has gained in on me after all?
Many thanks. - Answer
- Dear questioner,
cystic fibrosis (CF) is a genetically induced disease. The most common mutation leading to this disease is homozygosity for dF508 (genetic defect verifiable on both arms of chromosome 7). If a person inherited this genetic defect from both parents, he or she suffers from cystic fibrosis. The manifestation of the disease can vary and develop irrespective of a person’s age.
Unfortunately, your question provides too little information for a concrete answer. We do not know whether you have been diagnosed with cystic fibrosis in the first place, or whether you are possibly a healthy gene carrier? (In this context, “carrier” of the dF508 mutation in the form of heterozygosity means that the dF508 mutation is only verifiable on one arm of chromosome 7, with no proof of further genetic defects typical of cystic fibrosis on the second chromosome arm.) In this case, you would not have cystic fibrosis and your breathing difficulties have a different and possibly harmless cause. Nevertheless, you should definitely have a lung specialist clarify your problem which has been lasting for six weeks.
We do not know whether you have a homozygous form of dF508 or whether you are heterozygous for two mutations typical of CF, one of which is dF508? Both these cases would mean a CF diagnosis for you, which could possibly also lead to respiratory symptoms.
We therefore recommend you talk about this question to a doctor in person, preferably your CF doctor (provided you are being cared for in a CF clinic) or a lung specialist who can examine your breathing difficulties and initiate further diagnostics if necessary. Maybe our answer can help you in the personal conversation with your doctor.
Kind regards,
Dr. Christina Smaczny - 27.10.2011
