congenital liver fibrosis
Introduction
Introduction to congenital liver fibrosis Congenital hepatic fibrosis is a rare hereditary congenital malformation characterized by connective tissue hyperplasia and small bile duct hyperplasia in the portal area. In the later stages of the disease, portal hypertension is generally caused, and 50% of patients may die from massive bleeding in the digestive tract. . Kerr et al. (1961) first named the disease congenital liver fibrosis. basic knowledge Sickness ratio: 0.05% Susceptible people: no specific population Mode of infection: non-infectious Complications: gastrointestinal bleeding acute obstructive suppurative cholangitis liver abscess pancreatic cyst emphysema
Cause
Congenital liver fibrosis
Causes:
Congenital liver fibrosis (CHF) is an autosomal recessive hereditary disease. If any of its parents is heterozygous, its phenotype is normal, and its children have equal chance of suffering from CHF. Children's children can increase their chances of getting this disease.
Pathogenesis:
Liver enlargement texture hardens, liver portal area widens, portal vein branches decrease, occlusion or stenosis, peripheral fibrous tissue hyperplasia; intrahepatic bile duct dilatation and hyperplasia, dilated bile duct with normal columnar epithelial cells; and cirrhosis of children The difference in learning is that the structure of hepatocytes and hepatic lobules is normal, and there is no hepatocyte necrosis and regeneration.
Prevention
Congenital liver fibrosis prevention
Eat less greasy, fried, marinated products and foods containing artificial colors and artificial additives. Patients with liver fibrosis have less digestive output, affecting the absorption of fat foods and fat-soluble vitamins, so their digestion ability is poor, so oily, fried, fermented foods and preserved products such as sausages and bacon are best. It is good to eat; at the same time, it is best to take the principle of a small number of meals to reduce the load of liver and gallbladder.
Stop drinking. As long as there are liver diseases, whether it is hepatitis, fatty liver, cirrhosis, liver cancer, you must first stop drinking, because alcohol is mainly metabolized by the liver. When liver cells are damaged, the metabolism of alcohol is reduced, and drinking alcohol can easily aggravate liver damage.
Complication
Congenital liver fibrosis complications Complications, gastrointestinal bleeding, acute obstructive suppurative cholangitis, liver abscess, pancreatic cyst, emphysema
The disease is complicated by repeated episodes of gastrointestinal bleeding. The frequency of seizures varies from person to person, but it is generally not fierce. It can be controlled by medical treatment. It is generally not complicated by hepatic encephalopathy, ascites, jaundice and liver failure. After treatment, the prognosis is poor. The main cause of death is massive gastrointestinal bleeding (50% of patients), or death from other congenital malformations, such as polycystic kidney disease and renal failure, Caroli disease secondary to biliary epithelial cancer, Caroli disease complicated with acute obstructive suppurative cholangitis or liver abscess, and congenital malformations associated with this disease are:
1.Caroli disease
CHF is often accompanied by congenital intrahepatic bile duct dilatation. If both coexist, it is called Grumbach disease.
2. Congenital renal collecting duct dilatation
About one-third of patients with CHF are often associated with congenital renal dysplasia. The characteristics of renal lesions are similar to those of sponge kidney. However, unlike sponge kidneys, the former involves the collecting duct in all parts of the medulla and cortex, while the sponge kidney only There is a dilatation of the renal medulla, and most of the patients with this disease have no obvious symptoms of the kidney, but the kidneys can be found in the examination. Excretory urography can be seen in most streaks connected with the renal pelvis. The expanded collection of tube shadows, most of the CHF patients with this disease remain more unchanged in the kidney disease, but a few patients with disease progression, the expansion of the collecting duct discharge obstruction, can form a lesion similar to adult polycystic kidney disease (more than 30 Formed at ~40 years old, renal hypertension and uremia occur later in the course of the disease.
3. Other rare associated with malformations have congenital intrahepatic portal vein malformations (such as repeated portal vein branches, etc.)
Pancreatic cysts, small intestinal lymphangiectasis, emphysema, cerebral hemangioma, kidney and cerebral aneurysms.
Symptom
Congenital liver fibrosis symptoms Common symptoms Liver fibrosis, blood stasis, abdominal pain, intrahepatic bile duct stones, hepatic stellate cell hyperplasia, hepatosplenomegaly, pain, jaundice, varicose veins
The main manifestations of secondary portal hypertension and its complications, some patients with Caroli disease (congenital intrahepatic bile duct dilatation) or polycystic kidney disease, can be accompanied by the clinical manifestations of these two diseases.
Most patients develop symptoms in the 5 to 20 years old, but a small number of patients can appear at birth, mainly manifested as hematemesis, blood in the stool (digestive tract variceal bleeding), abdominal mass (hepatosplenomegaly), liver and spleen discomfort Or pain, anemia (caused by spleen), recurrent fever (concurrent with bile duct infection), combined with Caroli disease may be accompanied by recurrent epigastric pain (concurrent intrahepatic bile duct stones), fever, jaundice, etc., combined Polycystic kidney disease can eventually lead to symptoms of uremia.
Intelligence and physical development are generally normal. Most patients often have hepatosplenomegaly at the same time. The splenomegaly is the most common. The liver and spleen texture are hard, the surface is smooth, and the infection is accompanied by pain in the liver area. Some patients have subcutaneous varicose veins. (Sea snake head varicose veins), may smell the loud vein camp sound (Kennedy sign positive), this is the so-called Cruveilhier syndrome, caused by portal hypertension, and different from portal hypertension caused by other diseases, The disease generally does not occur ascites, there is no spider mites, combined with polycystic kidney disease, can be combined with kidney lumps at the same time, and may have renal hypertension.
Examine
Examination of congenital liver fibrosis
Blood routine can be normal, but those with splenomegaly have peripheral blood cells decreased, and various liver function indexes are generally normal, but a few people may have mild elevation of AKP and/or -GT, combined with polycystic kidney disease. Increased serum creatinine and urea nitrogen.
Esophageal swallowing and early gastroscopy can be found without abnormalities. Esophageal and gastric varices are generally seen after progression. B-ultrasound and CT can be seen in hepatosplenomegaly, portal vein dilatation, splenic vein dilatation, gastric coronary venous dilatation and portal hypertension. Polycystic kidney disease can be found in multiple cystic lesions of the kidney. Liver biopsy can usually detect typical congenital liver fibrosis, but in a few cases, if the puncture site happens to be a normal portal area, it can be misdiagnosed as Normal liver tissue.
Diagnosis
Diagnosis and diagnosis of congenital liver fibrosis
The histological features of the liver are an important basis for diagnosis, and intraoperative sections can be diagnosed.
The disease should be differentiated from intrahepatic portal hypertension caused by other causes, and the identification points of cirrhosis in children are:
1 The disease is more than 10 years old, portal hypertension, and more than 10 years of age in children with clinical symptoms.
2 The disease has normal liver function, while cirrhosis has a history of hepatitis and liver function changes.
3 The liver pathological changes of this disease are mainly fibroplasia in the portal area, and the hepatic lobule and hepatocyte structure are normal. In addition, the disease needs to be differentiated from hepatolenticular degeneration and galactosemia.
