abdominelle Manifestationen bei Mukoviszidose

Abdominal manifestations in cystic fibrosis (CF) are common, varied and nearly all organ systems can be affected, and it should be remembered that only 39% of patients with cystic fibrosis have pulmonary symptoms as their sole complaint . Not only that, but 7% of cystic fibrosis patients do not present until adulthood.

This article focuses on abdominal manifestations of cystic fibrosis. For general discussion of cystic fibrosis, and a discussion of its other manifestations, please refer to:

Pancreatic manifestations

The pancreas is the most commonly involved abdominal organ in cystic fibrosis. Exocrine gland insufficiency affects 85-90% of all cystic fibrosis patients and results from inspissated secretions leading to proximal duct obstruction with subsequent acinar disruption and replacement by fibrous tissue and fat.

Endocrine dysfunction occurs in 30-50% of cystic fibrosis patients:

  • fatty replacement
    • most common manifestation of the pancreas
    • can progress to complete pancreatic lipomatosis
    • mean age is 17 years
  • acute pancreatitis: occurs in patients with residual pancreatic exocrine function
  • pancreatic calcifications occur in 7% of patients
  • pancreatic cysts and cystosis: typically microscopic 3 mm diameter
  • pancreatic duct strictures

Hepatobiliary manifestations

Liver parenchymal disease
  • up to 72% of adult cystic fibrosis patients will develop liver disease
  • focal biliary cirrhosis (pathognomonic for cystic fibrosis and present in 78%): focal portal fibrosis and cholestasis; thickened hyperechoic periportal tissue on ultrasound (>2 mm thickness)
  • up to 12% progress to multilobular cirrhosis , but the development of hepatocellular carcinoma (HCC) is unusual
  • 1-8% progress to portal hypertension
  • hepatic steatosis (23-67% ; seen in 30% of cystic fibrosis patients at biopsy, 30-50% at imaging and 60% at autopsy)
  • pathophysiology is multifactorial
Biliary tree
  • gallstones: 12-24% of cystic fibrosis patients
  • sclerosing cholangitis
  • intrahepatic ductal strictures are seen in 100% of patients with cystic fibrosis and liver disease and may correspond histologically to focal biliary fibrosis seen in 78% of patients >24 years old
  • microgallbladder: seen in up to 30% of cystic fibrosis patients at autopsy

Gastrointestinal manifestations

  • gastro-esophageal reflux and associated complications such as Barrett esophagus: thought to be secondary to chronic cough, hyperinflation, and diaphragmatic depression
  • gastric and duodenal ulcerations: likely related to impaired bicarbonate secretion
  • distal intestinal obstruction syndrome (DIOS)
  • intussusception: typically ileocolic and may result from adherent fecal residue or enlarged lymphoid follicles ; a chronically distended appendix may be the lead point
  • despite the common distention of the appendix by inspissated secretions, the reported prevalence of acute appendicitis in cystic fibrosis patients is lower than that in the general population
  • colon: often abnormal, with proximal colonic wall thickening, pericolonic fat proliferation, and mesenteric fat infiltration
  • pneumatosis intestinalis: confined to the colon and typically coincides with the development of obstructive lung disease
  • rectal mucosal prolapse: typically in young children in whom a diagnosis of cystic fibrosis has not yet been made or young adults that are noncompliant with treatment
  • gastrointestinal tract malignancies: of which colorectal carcinoma is most common

Renal manifestations

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