Abstract

Cystic fibrosis is characterised by a great variety of clinical forms. It seems that determination of the expression depends on the mutation type of gene CFTR, however, results of surveys are not identical. In our study the correlation between DF508 mutation and exocrine pancreatic function was evaluated by results obtained in 24 children aged 18 months to 18 years. The CFTR gene mutations were detected by standard methods based on the polymerase chain reaction (PCR). Exocrine pancreatic function was assessed by means of the secretin-pancreozymin test, faecal fat excretion, serum amylase and lipase activities and immunoreactive trypsin levels. We found that the DF508 mutation correlates with exocrine pancreatic insufficiency. It seems that in some cases the duration of the disease may be a factor determining the pancreatic function.

Keywords: Cystic Fibrosis, Exocrine Pancreatic Insufficiency, genotype/phenotype correlation