[Clinical heterogeneity at the diagnosis in a cystic fibrosis population]

Abstract

We report a study of 128 patients, affected by cystic fibrosis, followed by Ospedale Bambino Gesù Center for diagnosis and therapy of cystic fibrosis. We evaluated, in a retrospective study, the principal symptoms at diagnosis of cystic fibrosis, underlining the frequent finding of not classically related symptoms. Median age at diagnosis was of 29 months, similar to that of other national centers. Furthermore, we report the percentages of diagnostic mistakes, which preceded cystic fibrosis diagnosis (22% of total). Considering the incidence of the disease in Italy (1:3000 live births), a careful valuation of related symptoms is necessary, even if gastrointestinal and/or respiratory disturbances are mild or underestimated, in order to reduce median age at diagnosis, still too high in Italy, compared to that reported by many North-European countries.