Cystic Fibrosis-Related Pancreatic Disorders

Abstract

Cystic fibrosis (CF) is the most common genetic disease among Caucasians; worldwide, it affects up to 80,000 children and adults. Its pathophysiology is due to a mutation of the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) channel, which alters the secretory epithelium of organs including lungs, intestines, sinuses and pancreas. The pancreas in particular can be affected and cystic fibrosis can result in acute pancreatitis, chronic pancreatitis, and pancreatic insufficiency, which can affect all ages with significant morbidity and mortality. Research has explored the interplay of cofactors that contribute to the pathophysiology of pancreatic-related disorders. This has provided clues to early screening and counseling for the cystic fibrosis population, as well as insights treating this disease. While there are currently no targeted therapies for CF-related pancreatic disorders, recent investigation of CFTR modulators and other mechanisms provides future promise.