Imaging of cystic fibrosis manifestations in the abdomen

Abstract

Cystic fibrosis is a common inherited autosomal recessive disease affecting 35,000 persons in the United States. It is caused by mutations of the cystic fibrosis transmembrane regulator (CFTR) gene, located on the long arm of chromosome 7.This protein carries chlorine in the membranes of epithelial cells of exocrine glands. Mutations in the CFTR gene results in production of abnormally viscous mucus. Although it primarily affects the lungs, cystic fibrosis is a multisystem disease with involvement of extra thoracic organs including the liver, pancreas, kidneys and digestive tract.With advances in the management of cystic fibrosis resulting in improved life expectancy, cystic fibrosis patients are surviving into adulthood and extrapulmonary disease has become more commonplace. It is essential that radiologists are aware of the spectrum of potential manifestations of cystic fibrosis to allow accurate diagnosis.The purpose of this manuscript is to provide an overview of the pathophysiology and imaging findings of abdominal entities unique to patients with cystic fibrosis. We will present a wide spectrum of renal, pancreatic, gastrointestinal, hepatobiliary and post-transplant cases describing the typical findings that will assist radiologists in providing a timely diagnosis for patients with cystic fibrosis.

Keywords: Abdomen; Cystic fibrosis; Gastrointestinal; Pancreatic transplant; Renal.