Cystic fibrosis – Comparison between patients in paediatric and adult age

AbstractCystic fibrosis (CF) is the most common autosomal recessive disease in Caucasians. Although most cases are diagnosed in childhood, diagnosis in adults is apparently increasing.ObjectiveEvaluate the adult population with CF, comparing patients who were diagnosed before and after 18 years of age.MethodsRetrospective analysis of patients followed in three main medical centres in Portugal in 2012. Comparison of two groups: G1 – patients diagnosed at <18 years and G2 – patients diagnosed at ≥18 years.Results89 adults were identified: 61.8% in G1, 38.2% in G2. Gender distribution was similar in both groups. Average age in G2 was higher (38.3±8.4 vs. 26.8±6.1 years, p<0.001). Respiratory symptoms most frequently led to CF diagnosis in all patients, mainly in adulthood. There was a greater percentage of patients homozygous for the mutation delF508 in G1 (43.6 vs. 8.8%, p=0.02). Respiratory and pancreatic function, and body mass index (BMI) showed a higher severity in G1 (G1 vs. G2: FEV1: 54.6±27.3 vs. 29.9±64.6%, p=0.177; pancreatic insufficiency 72.7 vs. 26.5%, p