title: [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.
authors.affiliation: Divisione di Gastroenterologia, Ospedale Pediatrico Bambino Gesu di Roma, Italia.
authors.forename: V
authors.initials: V
authors.lastname: Lucidi
authors.forename: P
authors.initials: P
authors.lastname: Rosati
authors.forename: S
authors.initials: S
authors.lastname: Bella
authors.forename: B
authors.initials: B
authors.lastname: Papadatou
authors.forename: F
authors.initials: F
authors.lastname: Ferretti
authors.forename: M
authors.initials: M
authors.lastname: Orrù
authors.forename: A
authors.initials: A
authors.lastname: Diámanti
authors.forename: M
authors.initials: M
authors.lastname: Castro
mesh_terms: D000367:Age Factors; D002648:Child; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D003951:Diagnostic Errors; D018740:Genetic Heterogeneity; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007558:Italy / Q000453:epidemiology; D015997:Neonatal Screening; D012189:Retrospective Studies
vernacular_title: Eterogeneità clinica alla diagnosi in una popolazione di pazienti con fibrosi cistica.