Congenital hepatic fibrosis

　　First, Etiology

　　Congenital hepatic fibrosis (CHF) is an autosomal recessive genetic disease. If either parent is a heterozygote, their phenotype is usually normal, and the children have an equal chance of developing CHF. It is possible for several people in the same family to be affected, and the children of consanguineous marriages are more likely to develop the disease.

　　Second, Pathogenesis

　　The liver becomes enlarged and hard, the area of portal tracts increases, the portal vein branches decrease, occlude, or narrow, and the surrounding fibrous tissue proliferates; the intralobular bile ducts expand and proliferate, and the expanded bile ducts are covered with normal columnar epithelial cells; unlike the histological changes of pediatric liver cirrhosis, the structure of liver cells and liver lobules is normal, without liver cell necrosis or regeneration.

　　This disease often presents with recurrent gastrointestinal bleeding, the frequency of which varies from person to person, but it is generally not severe and can usually be controlled with medical treatment. Generally, it does not lead to hepatic encephalopathy, ascites, jaundice, or liver failure. Without treatment, the prognosis is poor, and the main cause of death is massive gastrointestinal bleeding (50% of patients) or death due to other associated congenital malformations, such as polycystic kidney disease with renal failure, Caroli disease with secondary biliary epithelial cancer, Caroli disease complicated with acute obstructive suppurative cholangitis or liver abscess, and so on.

　　Congenital malformations associated with this disease include:

　　1. CHF with Caroli disease often has congenital bile duct dilation within the liver. If both exist, it is called Grumbach disease.

　　2. About 1/3 of CHF patients often have congenital renal dysplasia, and the characteristics of the renal lesions are very similar to those of sponge kidney. However, unlike sponge kidney, the former involves the collecting ducts in all parts of the medulla and cortex, while sponge kidney only has dilated collecting ducts in the renal medulla. Most patients with this syndrome have no obvious renal symptoms, but physical examination may reveal renal enlargement, and excretory urography can show multiple streaky dilated collecting duct shadows connected with the renal calyces. The renal lesions of most CHF patients with this disease remain unchanged, but in a few patients, the lesions progress, and the outlet of the dilated collecting ducts is obstructed, which can form lesions similar to adult polycystic kidney disease (forming mostly between the ages of 30 to 40), and renal hypertension and uremia appear in the later stage of the disease.

　　3. Other rare associated malformations include congenital intrapulmonary portal vein anomalies (such as duplicated portal vein branches), pancreatic cysts, intestinal lymphangiectasis, emphysema, cerebral aneurysms, renal and cerebral arteriovenous malformations, etc.

　　The main manifestation is secondary portal hypertension and its complications. Some patients may have concurrent Caroli disease (congenital bile duct dilation) or polycystic kidney disease, and may simultaneously have the clinical manifestations of these two diseases.

　　1. Most patients present symptoms between the ages of 5 to 20, but a small number of patients may present symptoms at birth, mainly manifested as hematemesis, hematochezia (bleeding from esophageal varices), abdominal mass (hepatosplenomegaly), discomfort or distension in the liver and spleen area, anemia (due to splenic hyperactivity), recurrent fever (due to concurrent biliary tract infection), and when complicated with Caroli disease, it may be accompanied by recurrent upper abdominal pain (due to intrahepatic bile duct stones), fever, jaundice, etc. Patients with polycystic kidney disease may eventually present with symptoms of uremia.

　　2. Intelligence and physical development are generally normal. Most patients often have splenomegaly and hepatomegaly, with splenomegaly being the most common. The texture of the liver and spleen is relatively hard, and the surface is smooth. When complications occur, there may be tenderness in the liver area, and some patients may have umbilical subcutaneous varices (snakehead-like varices). There may be a loud venous sound next to the umbilicus (Kennedy sign positive), which is what is called Cruveilhier syndrome, caused by portal hypertension. It is different from portal hypertension caused by other diseases. This disease generally does not present with ascites, nor does it have spider nevi. Patients with polycystic kidney disease can simultaneously palpate kidney masses, and may have renal hypertension.

　　The etiology of this disease is unclear, related to autosomal recessive inheritance, usually associated with consanguineous marriage, and there is no direct prevention for this disease. Patients with a suspected family history of chromosomal abnormalities should undergo genetic screening to avoid offspring suffering from this disease due to chromosomal inheritance after marriage. At the same time, attention should be paid to strengthening prenatal nutrition, reasonable diet, and avoiding adverse stimuli that affect embryo development such as emotional excitement.

　　Blood routine may be normal, but in patients with hypersplenism, peripheral blood cells are reduced, various liver function indicators are generally normal, but a few people may have mild elevation of AKP and/or γ-GT. In patients with polycystic kidney disease, blood creatinine and urea nitrogen levels may increase in the later stage.

　　Esophageal barium swallow and early gastroscopy may show no abnormalities, but after the condition progresses, esophageal varices and gastric fundus varices are generally visible, and ultrasound and CT can show liver and spleen enlargement, portal vein dilatation, splenic vein dilatation, gastric coronary vein dilatation, and portal hypertension. In patients with polycystic kidney disease, double renal multicystic lesions can be found. Liver biopsy generally shows typical congenital liver fibrosis lesions, but in some cases, if the puncture site is exactly the normal portal area, it may be misdiagnosed as normal liver tissue.

　　The current treatment of liver fibrosis mainly relies on medication. During the treatment process, attention should be paid to rational diet to avoid aggravating the condition or causing the condition to recur:

　　1. Supplement vitamin C

　　Vitamin C directly participates in liver metabolism, promoting the formation of glycogen. Increasing the concentration of vitamin C in the body can protect the resistance of liver cells and promote the regeneration of liver cells. The concentration of vitamin C in ascites is equal to that in the blood, so a large amount of vitamin C should be supplemented when ascites occurs. The skin of fruits should be peeled or juiced for drinking.

　　2. Eat more zinc and magnesium-rich foods

　　Patients with liver fibrosis generally have low blood zinc levels, increased urinary zinc excretion, and decreased zinc content in liver cells. When drinking alcohol, the blood zinc level will continue to decrease, so alcohol should be strictly prohibited. Appropriate consumption of foods rich in zinc, such as lean pork, beef, eggs, and fish. To prevent magnesium deficiency, foods such as green leafy vegetables, peas, dairy products, and grains should be consumed more.

　　3. Limit the water and sodium in the diet

　　Patients with edema or mild ascites should be given a low-salt diet, with no more than 3 grams of salt intake per day; when severe edema occurs, a salt-free diet is recommended, with sodium limited to about 500 milligrams. Foods containing a lot of sodium should be avoided, such as not using alkali when steaming buns, and can be replaced with fresh yeast dough, or eat salt-free bread. Noodles contain a lot of sodium and are not suitable for consumption. Eat less or no pickled vegetables, and pay attention to cooking methods, adding flavorings and salt after the vegetables are cooked. The daily water intake should be limited to 1000 to 1500 milliliters.

　　4. Adequate carbohydrates

　　Sufficient carbohydrates can fully store glycogen in the body, prevent toxins from damaging liver cells, and consume 350 to 450 grams of starchy foods daily.

　　5. Appropriate amount of fat

　　After some patients develop liver fibrosis, they are afraid to eat fat, but in fact, fat should not be restricted too strictly. Due to reasons such as incomplete pancreatic function, reduced bile secretion, congested lymphatics or portal, nearly half of the liver cirrhosis patients have steatorrhea, poor absorption of fat. When these symptoms appear, fat intake should be controlled. However, if patients do not have these symptoms and can adapt to the fat in food, in order to increase calories, fat should not be restricted too strictly. For bile cirrhosis, a low-fat, low-cholesterol diet should be adopted.

　　6. Rational application of protein

　　The liver is the site of protein synthesis, and 11 to 14 grams of albumin are synthesized by the liver daily. When liver fibrosis occurs, the liver cannot synthesize proteins well. At this time, it is necessary to arrange the intake of protein rationally to prevent the occurrence of hepatic encephalopathy. Protein foods from various sources can be chosen. To help patients adapt better, cheese can be mixed with moderate amounts of chicken, fish, lean meat, and eggs, and a reasonable and moderate protein diet should be consumed daily.

　　I. Treatment

　　1. Most CHF patients without accompanying diseases only need to be treated for their complications, such as gastrointestinal bleeding. For those with minor bleeding, hemostatic agents, blood transfusions, and three-bag two-cavity tube compression can be administered. For those with severe bleeding, if the above treatments are ineffective, emergency portal hemostasis (such as peripheral esophageal vascular ligation) can be performed. For patients with recurrent upper gastrointestinal bleeding, which threatens their survival, or when the above methods are ineffective, portal-systemic shunt surgery can be considered.

　　2. Simple splenectomy was once used in CHF patients with hypersplenism, but due to its inability to effectively prevent upper gastrointestinal bleeding and its impact on the operation of possible future portosystemic shunts, it is no longer used.

　　3. When CHF is accompanied by asymptomatic static Caroli disease, it is generally not recommended to perform biliary exploration, as it can lead to biliary infection. For patients with non-static Caroli disease, see the relevant content of biliary diseases.

　　4. Patients with end-stage congenital kidney disease should consider kidney transplantation.

　　II. Prognosis

　　This disease is a genetic disease and there is currently no curative method. Children with symptoms such as splenomegaly, recurrent hematemesis, and melena due to portal hypertension should receive shunt surgery or splenectomy, and esophagogastric fundus disconnection surgery in a timely manner. A successful operation usually leads to a good prognosis. Lately, liver transplantation has also been used to treat this disease. If the child has concurrent intrahepatic bile stasis, cholangitis, and sepsis, or concurrent renal pelvis inflammation, renal hypertension, renal failure, and other kidney diseases, it will affect the prognosis.