Cystic fibrosis (CF), the most common lethal autosomal recessive disease in white populations, is characterized by dysfunctional chloride ion transport across epithelial surfaces. Although recurrent pulmonary infections and pulmonary insufficiency are the principal causes of morbidity and death, gastrointestinal symptoms commonly precede the pulmonary findings and may suggest the diagnosis in infants and young children. The protean gastrointestinal manifestations of CF result primarily from abnormally viscous luminal secretions within hollow viscera and the ducts of solid organs.

Synopsis

 neonatal digestive obstruction

• meconial ileus (meconium ileus)
• meconial plug syndrome
• complications of meconial ileus:
  • neonatal intestinal volvulus
  • neonatal intestinal atresia
  • neonatal intestinal perforation
    • meconial peritonitis with abdominal calcifications

 in older children with CF

• intestinal obstruction
  • distal intestinal obstruction syndrome
    • colonic stricture
    • tenacious intestinal residue
    • intestinal intussusception
    • recurrent rectal prolapse

 thickened intestinal mucosal
 colonic pneumatosis
 peptic esophageal stricture due to gastroesophageal reflux
 duodenal ulcer
 appendicitis due to inspissated secretions
 Crohn-like colitis (indeterminate colitis) (#9587500#)

 pancreatic anomalies

• obstruction of ducts and ductules
• exocrine pancreatic insufficiency
• pancreatitis
• small pancreas
• largely replaced by fat
• calcifications
• macrocysts

 hepatic anomalies

• cholestasis
• cholelithiasis
• biliary cirrhosis with portal hypertension
• steatosis
• gallstones
• shrunken nodular liver
• portal hypertension
  • splenomegaly
  • portosystemic collateral vessels

 increased risk for developing gastrointestinal carcinomas, as early as the 3rd decade.

Localization

 colonic cystic fibrosis

• cystic fibrosis colonopathy

 appendiceal cystic fibrosis

References

 Agrons GA, Corse WR, Markowitz RI, Suarez ES, Perry DR. Gastrointestinal manifestations of cystic fibrosis: radiologic-pathologic correlation. Radiographics. 1996 Jul;16(4):871-93. PMID: #8835977#