Cystic fibrosis (CF) is the most common fatal autosomal recessive disease in the Caucasian population. A mutation in the cystic fibrosis transmembrane regulator protein (CFTR) gene leads to the production of abnormally viscous mucus and secretions in the lungs of these patients. A similar pathology also occurs in other organs. In the abdomen, among others the gastrointestinal tract, the pancreas, and the hepatobiliary system are affected. The involvement of the pancreas leads to its exocrine and endocrine insufficiency. Hepatic manifestations include hepatic steatosis, focal biliary and multilobular cirrhosis, and portal hypertension. Biliary complications include cholelithiasis, microgallbladder, and sclerosing cholangitis. In the gastrointestinal tract, complications such as the distal intestinal obstruction syndrome, invaginations, chronic constipation, wall thickening, and fibrosis in the colon may occur. An important renal manifestation is nephrolithiasis. With currently rapidly increasing life expectancy of patients with cystic fibrosis, complications of extrapulmonary cystic fibrosis manifestations including hepatic and gastrointestinal malignancy could be an increasing cause of morbidity and mortality of these patients. It is therefore important for radiologists to know and recognize these clinical patterns and to monitor these manifestations in follow-up exams. Previous therapy of extrapulmonary manifestations has been largely symptomatic. Fortunately, the new CFTR modulators seem to represent an effective causal therapeutic approach here.
Keywords: Diabetes mellitus; Exocrine pancreatic insufficiency; Liver disease; Meconium ileus; Neonatal screening.