Cystic Fibrosis and Congenital Anomalies of the Exocrine Pancreas

Cystic fibrosis (CF) is an autosomal recessive disease that involves multiple organ systems, most importantly the respiratory and gastrointestinal tracts. Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) are responsible for the CF phenotype, which varies according to genotype. Airway clearance, antibiotics, and exogenous pancreatic enzymes have traditionally been the mainstays of therapy. More recently, CFTR modulators have become available, which correct the underlying defect due to certain mutations. The majority of patients with CF have exocrine pancreatic insufficiency leading to malabsorption of nutrients and a variety of gastrointestinal symptoms and presentations. Nutrition support is critical for patients with CF and is complicated due to decreased caloric intake, gastrointestinal disease, and increased energy expenditure. Nutritional status correlates with pulmonary function and overall outcomes. CF-related liver disease is an important contributor to morbidity and mortality in a subset of patients with CF. While CF is the major cause of exocrine pancreatic insufficiency in children, other congenital anomalies of the pancreas syndromes may also cause exocrine insufficiency and pancreatic disease.