Unique presentations and chronic complications in adult cystic fibrosis: do they teach us anything about CFTR?

Abstract

Abstract The increase in numbers of adults with cystic fibrosis (CF) has allowed us to identify previously unrecognized chronic complications of CF, as well as appreciate unique presentations of cystic fibrosis-related diseases. Do these chronic complications and unique presentations provide us with new insight into cystic fibrosis transmembrane conductance regulator (CFTR) function? Current data suggest that the 'chronic complications' reveal mainly the effect of a long-term absence of previously recognized CFTR functions. In contrast, the 'unique presentations' provide new insight into the role of CFTR in different tissues.

Keywords

• congenital bilateral absence of the vas deferens
• cystic fibrosis
• cystic fibrosis transmembrane conductance regulator
• malignancy
• pancreatitis