Cystic fibrosis is a systemic hereditary disease that occurs in children and young adults. The main pathological changes involve dysfunction of the exocrine glands, hyperplasia of the mucous glands, and viscous secretions, with varying degrees of organ involvement. It primarily affects the lungs, pancreas, and intestines, and can lead to chronic obstructive pulmonary disease, pancreatic insufficiency, and liver cirrhosis.

bubble_chart Pathological Changes

Autopsy materials from cystic fibrosis patients show that 25% have focal gall fel-like cirrhosis, and 5% of adolescents progress to cirrhosis. The pathological manifestations are divided into 3 types:

1. Focal gall fel-like cirrhosis

characterized by bile duct proliferation, luminal occlusion by condensed eosinophilic material, chronic inflammatory cell infiltration, and varying degrees of fibrosis. The lesions are focally distributed, with significant individual differences in quantity and severity. The incidence of focal gall fel-like cirrhosis increases with age.

2. Pathological changes in the bile duct roots or bile duct epithelium

There is abundant mucus, bile duct proliferation, and metaplasia of the bile duct epithelium. Portal area changes include edema and inflammatory cell infiltration. This type is more common in infants under 1 year of age.

3. Only portal area lesions, without mucus in the bile ducts

This type is common in infants under 3 months of age and is not seen in older children.

Portal area changes are transient, and mucus in the bile ducts is an important cause of cystic liver fibrosis. Additionally, other factors contribute to the formation of cystic liver fibrosis. Furthermore, there are hemosiderin deposition and intrahepatic fatty infiltration.

1. In infancy, obstructive jaundice may occur, which can develop within 3 weeks after birth and last for 20 to 180 days. It may be accompanied by small intestine atresia or intestinal volvulus. The accumulation of thick bile is the cause of extrahepatic obstruction. Cystic fibrosis may be associated with obstructive jaundice, neonatal hepatitis, and hepatocyte transformation into giant cells. Some infants may recover completely, while others may die from liver failure and other complications. A history of meconium ileus should raise suspicion of this disease.

2. Liver disease-related symptoms occur in 2–16% of cystic fibrosis patients, such as upper gastrointestinal bleeding due to portal hypertension or splenomegaly. Manifestations of liver dysfunction may also be present. Additionally, hepatomegaly and growth retardation may occur.

Some patients may develop cholelithiasis and cholecystitis. In 15% of patients, the gallbladder is small, and in 25%, it is nearly invisible. Gallstones are present in 8% of cases. Biliary tract disease may be related to the deposition of abnormal biliary secretions or bile composition abnormalities leading to bile accumulation and biliary obstruction.

bubble_chart Auxiliary Examination

Increased chloride levels in sweat, 80-85% of pancreatic exocrine function is impaired, 5-10% have partial exocrine insufficiency. A small portion have normal exocrine function. The main manifestations of pancreatic insufficiency are steatorrhea and excessive nitrogen in feces.

Impaired absorption of fat-soluble vitamins such as vitamins A, D, E, and K, vitamin K deficiency may occur by age 1, with a tendency to bleed. Low serum vitamin A levels, normal or elevated liver concentrations, may lead to night blindness and increased intracranial pressure.

bubble_chart Diagnosis

The diagnosis can be established based on clinical manifestations such as obstructive jaundice, hepatomegaly, and portal hypertension; elevated serum ALT, AST, and alkaline phosphatase; non-visualization of the gallbladder on cholecystography; increased chloride levels in sweat; and abnormal liver biopsy findings.

bubble_chart Treatment Measures

Drugs that stimulate bile secretion are ineffective. There have been reports of successful treatment by flushing the extrahepatic biliary system with normal saline. For patients with portal hypertension and good respiratory function, a portosystemic shunt may be performed. If respiratory failure is present, esophageal variceal bleeding can only be treated with sclerotherapy or ligation therapy.