Cystic fibrosis – Comparison between patients in paediatric and adult age

Abstract

Cystic fibrosis (CF) is the most common autosomal recessive disease in Caucasians. Although most cases are diagnosed in childhood, diagnosis in adults is apparently increasing. Objective: Evaluate the adult population with CF, comparing patients who were diagnosed before and after 18 years of age. Methods: Retrospective 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. Results: 89 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 < 0.001; BMI 20.2 ± 3.4 vs. 22.2 ± 4.8, p = 0.018). Pseudomonas aeruginosa and methicillin-sensitive Staphylococcus aureus were the most frequently isolated microorganisms. Lung transplantation rate was higher in G2 (20.6 vs. 10.9%, p = 0.231) while mortality rate was higher in G1 (0 vs. 3.6%, p = 0.261). Hospital admission rate was higher in G1 as well as mortality rate. Conclusion: The results suggest that patients with CF diagnosed in childhood have characteristics that distinguish them from those diagnosed in adulthood, and these differences may have implications for diagnosis, prognosis and life expectancy. Keywords: Cystic fibrosis, Cystic fibrosis diagnosis, Cystic fibrosis in childhood, Cystic fibrosis adult, Cystic fibrosis late diagnosis