Cystic fibrosis (CF) generally is thought of as a lung disease since much of the associated morbidity and mortality is related to pulmonary complications. A discussion of the pulmonary manifestations of CF is presented separately. (See "Cystic fibrosis: Clinical manifestations of pulmonary disease" and "Cystic fibrosis: Overview of the treatment of lung disease".)
Gastrointestinal complications have become an increasingly important cause of morbidity in patients with CF, in part because of improved life expectancy. This topic review provides an overview of the gastrointestinal manifestations of CF. Pancreatic insufficiency, which is one of the most clinically important gastrointestinal issues, and other nutritional issues are addressed separately. (See "Cystic fibrosis: Assessment and management of pancreatic insufficiency" and "Cystic fibrosis: Nutritional issues".)
The underlying pathophysiology of cystic fibrosis is related to abnormal chloride transport caused by mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR) located on chromosome 7. The mutations cause the production of abnormally tenacious mucus and secretions in the lungs, gut, pancreas, and hepatobiliary system. As a result, the lumens of these organs become obstructed leading to the clinical findings associated with this disease process. (See "Cystic fibrosis: Genetics and pathogenesis".)
CATEGORIES OF DISEASE
The gastrointestinal manifestations of CF can be broken down into three categories: intestinal, pancreatic, and hepatobiliary.
Intestinal — Intestinal abnormalities include gastroesophageal reflux disease (GERD), meconium ileus (MI), distal intestinal obstruction syndrome (DIOS), intussusception, small intestine bacterial overgrowth, constipation, and rectal prolapse.