Cystic fibrosis in adult age

Abstract

Aim: To know the prevalence of the patients diagnosed of cystic fibrosis (CF) older than 18 years old of five specific Spanish Units and to analyze their clinical, genetic and microbiological characteristics.

Patients and methods: Observational, cross-sectional, descriptive study of patients diagnosed with CF at age or older than 18 years. The variables analyzed were: current age, age at diagnosis, sex, nationality, lung function parameters, pathologies presented at diagnosis, microbiological features and genetic findings.

Results: Eigthy nine patients (14.8% of the total of 600 CF patients followed at the participating units), of which 45 patients were female (50.6%) and 44 were males (49.4%), were included with a mean age at diagnosis of 36.4 years. Eigthy one patients (91%) were Spaniards. The sweat test was diagnostic in 77 (86.5%) of the patients studied. The sweat test was diagnostic in 77 of the 89 patients studied (86.5%). The most frequently detected mutations were F508del/other and G542X/other, and the most frequent clinical findings at diagnosis were the presence of bronchiectasis in 33 patients (37.1%) followed by sterility in 12 patients (13.5%). The most common colonizing organisms were meticillin-sensitive Staphylococcus aureus (S.aureus) (23.6%) and Pseudomonas aeruginosa (P. aeruginosa) (13.5%). Most patients presented a mild obstructive ventilatory defect and had no pancreatic involvement. The sweat test used to be indeterminate.

Conclusions: CF is also a disease which diagnosis can be in adulthood. CF patients diagnosed in adulthood have a mild lung function and lower incidence of pancreatic involvement, so their prognosis tends to be favorable.

Keywords: Adult; Adulto; Cystic fibrosis; Epidemiology; Epidemiología; Fibrosis quística; Genetics; Genética.