Introduction:
A hereditary exocrine gland disease, mainly affecting the gastrointestinal tract and respiratory system, usually characterized by chronic obstructive pulmonary disease, insufficient pancreatic exocrine function, and abnormally elevated sweat electrolytes.
Cause:
Cystic fibrosis (CF)It is the most common hereditary disease with shortened life span in whites. The incidence rate in the United States is about 1/3300 white infants, 1/15300 black infants, 1/32000 Asian Americans; 30% of adults are adults.
CF is an autosomal recessive inheritance, with 3% of genes in whites. The related gene is located on the 250,000 base pairs of chromosome 7q (long arm) genomic DNA, which encodes a membrane-associated protein called cystic fibrosis. Transmembrane regulatory matrix (CFTR). The most common gene mutation, ΔF508, results in the deletion of a phenylalanine residue at the CFTR protein 508 position and occurs in approximately 70% of the alleles; another 30% has 600 More rare mutations in the above genes. The function of CFTR is not yet clear, but it is clearly part of the chloride channel of cAMP regulation, and regulates the transport of chlorine and sodium across the cell membrane. There are no abnormal clinical symptoms of heterozygotes, but there is a mild abnormality in epithelial membrane transport.
symptom:
According to the clinical manifestations of obstructive jaundice, hepatomegaly, portal hypertension, serum ALT, AST and alkaline phosphatase; gallbladder angiography is not developed; chloride in the sweat and liver biopsy abnormalities can establish a diagnosis.
1. Infancy may have obstructive jaundice, which can occur within 3 weeks after birth, lasting for 20 to 180 days, may be accompanied by small intestine atresia, intestinal torsion, and viscous cholestasis is the cause of extrahepatic obstruction. Cystic fibrosis can be accompanied by obstructive jaundice, neonatal hepatitis, and hepatocytes become giant cells. Some babies can be completely relieved, and some can die from liver failure and their comorbidities. If you have a history of meconium ileum obstruction, you should consider this disease.
2.2% to 16% of patients with cystic fibrosis have symptoms associated with liver disease, such as upper gastrointestinal bleeding or splenomegaly in portal hypertension. There is a manifestation of liver dysfunction. In addition, there may be hepatomegaly and growth retardation.
Some patients may have cholelithiasis and cholecystitis, 15% of patients have small gallbladder, and 25% have almost no gallbladder. 8% have gallstones. Biliary tract disease may be associated with abnormal secretion of bile ducts or abnormal bile components leading to bile deposition and obstruction of the biliary tract.
diagnosis:
Identification with other pancreatic diseases.
complication:
May be complicated by vasculitis and arthritis.
treatment:
The drug that stimulates the secretion of bile is ineffective, and the treatment of the extrahepatic biliary system with saline has been reported to be successful. Patients with portal hypertension, such as good respiratory function, can do door-to-body shunt. For respiratory failure, esophageal varices can only be treated with sclerotherapy or ligation.
prevention:
The course of the disease varies greatly, depending on the extent of lung involvement. However, deterioration is unavoidable, leading to failure and eventual death, usually due to both respiratory failure and pulmonary heart disease.
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