150 Influence of the F508del mutation on pulmonary function of patients with cystic fibrosis

Abstract

Objectives Evaluation of pulmonary function by FVC, FEV 1 , FEV 25–75 and PEF in cystic fibrosis (CF) patients depending on CFTR mutations. Methods The investigation has included 27 patients with CF, aged between 6–35 years (15.4±7.1 years). The investigation group includes 18 patients (66.67%) the CF patients with homozygote and heterozygote after F508del mutation and the control group – 9 patients with non-F508del genotype. Pulmonary function of the CF patients was evaluated FVC, FEV 1, FEV 25–75, PEF. Results Depending on mutations of the gene CFTR 33.33% patients have F508del/F508del genotype, 33.3% patients are heterozygotes F508del and 9 patients are non-F508del. The second mutation of CFTR gene in heterozygotes with F508del: 2789+5G→A (2 patients), one time of mutations R553X, G542X, G45E, 185+1G>T and 3 patients were not identified having mutations. Non-F508del CF patients had the following mutations: 128+1G>A, 2789+5G>A, 621+1G>7, G542X, 1898+1G>A, 3849+10kbC>T, 2184insA, 1677del, N1303K, c531dup. Patients of the investigation group have lower average of FVC – 69.46±1.13% vs 89.82±1.81% (p 1 in CF patients with mutation F508del is 65.54±1.42% versus 88.24±2.19% (p 25–75 – 56.29±1.78% (control group 84.74±3.98%) and PEF – 58.14±1.48% (in non-F508del CF patients – 86.69±3.28; p Conclusion F508del mutation in patients with CF determines strong decrease of pulmonary function expressed by low values of FVC, FEV 1 , FEV 25–75 and PEF compared to patients with other CFTR mutations.