Patients with a late diagnosis of CF may present with a wide spectrum of symptoms like chronic pancreatitis, cough, asthma, obstructive lung disease, non-CF bronchiectasis or infertility issues. According the statistics in developed countries, median age of death in CF is around 30 years of age and predicted life expectancy for people born today is nearing 50 years. Therefore when a patient aged way over 50 years doctors rarely think about CF. Currently it is known that adult-diagnosed patients can be expected to have a lower prevalence of PI and P aeruginosa infections, but over time have a higher frequency of pancreatitis, are at greater risk for NTM infection, and historically have primarily died of respiratory complications.
We present 68-year old lady with known bronchiectasis since 7 years, when she was diagnosed with atypical mycobacterial infection (Mycobacterium chelonae). Additionally due to long term active smoking the patient is labeled with COPD. She had 3 spontaneous abortions and one successful pregnancy in the past, as well as toxic hepatitis, GER and seropositive rheumatoid arthritis. For more than 4 years the patient is often hospitalized due to pulmonary exacerbations until she grew over resistant Stenotrophomonas maltophila in bronchoalveolar lavage culture and therapy advice was sought in our clinic. We analyzed CFTR and revealed the mutations F508del and ply-Ttractvariations (5T). These mutations still retain some activity of the chloride channel encoded by the CFTR gene.
The diagnosis of CF was made in our patient at an exceptionally advanced age (65 years) probably due to the residual function of the second mutation. Currently she leads healthier lifestyle,but is still remorsefull for her over 20 years heavy smoking.