225 PIP score could predict the risk of pancreatitis in patients with cystic fibrosis (CF)?

Abstract

Objective: To assess the level of fecal elastase-1 (FE-1) in relation to CFTR gene mutations in patients with cystic fibrosis (CF). Materials and Methods: This study included 49 patients (23 boys) with CF, mean age 8.43±0.99 years. CF was established on the basis of a positive sweat test (Macroduct, Wescor USA) and the results of molecular genetic analysis. Genetic diagnosis was realized for 36 CFTR mutations in genetic laboratories from Germany and France. To detect pancreatic insufficiency (PI) was defined FE-1 (ScheBo Biotech, Germany). The values of FE-1 in the range 0–100mg/g, are characteristic for severe exocrine PI, 100–200mg/g for moderate exocrine PI, and >200mg/g for pancreatic sufficiency. Results: F508del mutation was revealed in 73.33% cases (40.0% − homozygotes), known genotype with other mutations was found in 18.26% cases. Low values of FE-1 (7.89±3.70mg/g) confirmed exocrine PI in 81.64% patients with CF. PI with FE-1 of 2.90±0.78mg/g was confirmed in 100% children with homozygous state of F508del mutation. F508del mutation in heterozygous state caused decreased levels of FE-1 (33.69±19.34mg/g). Only 5.88% patients with CF F508del heterozygous were pancreatic sufficient and other 11.7% cases were moderate PI. Non-F508del CFTR mutations determined FE-1 levels of 218.64±64.87mg/g, with PI in 57.89% patients. Conclusion: The F508del mutations in homozygous state were associated with severe pancreatic exocrine insufficiency in all patients. Heterozygous state of mutation F508del requires association with another mutation and in most cases led to pancreatic enzyme deficiency. Non-F508del CFTR mutations are not obligatory associated with PI.