digestive cystic fibrosis

Definition: 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.

Images

 appendiceal cystic fibrosis

• https://twitter.com/mreyesm/status/726500475139428352

 inspissated mucin in small bowel crypts in cystic fibrosis.

• https://twitter.com/DraEosina/status/795994587768770560

Synopsis

 meconium peritonitis

 neonatal digestive obstruction

• meconial calcifications (meconial calcifications)
• meconium peritonitis (meconial peritonitis)
• meconial ileus (meconium ileus)
  • neonatal intestinal volvulus
  • neonatal intestinal atresia
  • neonatal intestinal perforation
    • meconial peritonitis with abdominal calcifications

• colonic meconial plug syndrome
  • colonic perforation
    • right colon perforation (7175631)
    • junction left colon-sigmoid colon 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
• digestive pneumatosis (16702447)
  • intestinal pneumatosis (3726132, 9530294)
  • colonic pneumatosis (1119460)

• rare necrotizing enterocolitis
• peptic esophageal stricture due to gastroesophageal reflux
• duodenal ulcer
• enteritis (10799435)
• appendicitis due to inspissated secretions
• neonatal acute appendicitis
• Clostridium difficile-associated colitis (or antibiotic-associated colitis or pseudomembranous colitis (9930816, 9470027, 8014775)
• Crohn-like colitis (indeterminate colitis) (9587500)
• fibrosing colonopathy

 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

Videos

 Meconium obstruction with necrosis (by Washington Deceit)

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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