Fatal intrahepatic cholestasis syndrome

　　It is an autosomal recessive inheritance, which may be caused by congenital hereditary biochemical metabolism abnormality, leading to bile acid metabolism, transport and excretion disorders, causing bile stasis. Bile flow obstruction can occur at any point in the entire pathway from hepatocytes, bile ducts to Vater ampulla. It is very important to distinguish between intrahepatic and extrahepatic causes in clinical practice. The most common intrahepatic cause is viral hepatitis or other hepatitis, drug-induced liver disease and alcoholic liver disease. Less common causes include primary biliary cirrhosis, intrahepatic cholestasis during pregnancy, metastatic liver cancer, and other rare diseases. Bile stasis caused by extrahepatic causes is common in choledocholithiasis or pancreatic duct cancer. Other less common causes include benign stricture of the common bile duct (often related to previous surgery), bile duct cancer, pancreatitis or pancreatic pseudocyst, and sclerosing cholangitis.

　　Patients often have symptoms such as restlessness, malabsorption, poor development, rickets, etc. In the late stage, there are refractory complications such as hepatorenal syndrome, massive hemorrhage in the gastrointestinal tract, severe bleeding tendency (bruises at injection sites, etc.), severe infection, difficult to correct electrolyte disturbance or grade II and above hepatic encephalopathy, cerebral edema, prothrombin activity ≤20%. Pay attention to dynamic monitoring of liver and kidney function. Achieve early detection and early treatment, and maximize the prognosis of the disease.

　　This disease is rare, appearing with recurrent jaundice in neonatal period; and gradually deepen, skin itching, epistaxis, enlargement of liver and spleen, steatorrhea, feces have bad smell and light color; can also occur jaundice a few months after birth, patients are restless, malabsorption, poor development, rickets.

　　It is an autosomal recessive inheritance, without effective preventive measures. It is affected by the genetic genes of the parents themselves, which is a factor that modern human medicine cannot change. However, reasonable genetic counseling, strengthening prenatal care, and reducing the pregnancy rate of elderly pregnant women are effective measures to reduce the disease. Clinical doctors can provide health counseling based on the previous pregnancy and delivery history of the parents of the child, and strengthen perinatal care when necessary, actively strive for prenatal diagnosis, and try to avoid the birth of children with developmental defects.

　　Serum total bilirubin increased, mainly due to conjugated bilirubin, serum alkaline phosphatase increased, cholesterol normal or decreased, prothrombin time prolonged; urine bilirubin positive; feces contain fat globules.

　　First, therapeutic diet for intrahepatic cholestasis during pregnancy

　　1, Mungo beans 30 grams, Coix Seed 30 grams, Lily 30 grams, Mint 10 grams, add appropriate amount of water. First, boil mungo beans, Coix Seed, and Lily together, then add mint and rock sugar when the beans are cooked. Suitable for skin itching in pregnant women.

　　2. Silver ear 50 grams, lily 30 grams, lotus seeds 15 grams, decocted in water, add rock sugar. Suitable for pregnant women with skin itching and irritability, insomnia.

　　3. Corn silk 50 grams, coix seed 30 grams, 5 red dates, decocted in water. Suitable for skin itching with jaundice, anorexia, and difficulty in urination.

　　4. Watermelon rind 200 grams, artemisia 15 grams, appropriate amount of sugar, decocted as tea. Suitable for itching with jaundice and fullness in the ribs.

　　5. Astragalus 30 grams, decocted in water, add 50 grams of glutinous rice, 50 grams of red beans, and 20 red dates, cook into porridge. Suitable for itching with spleen and blood deficiency, habitual abortion.

　　II. Foods to Avoid During Pregnancy with Intrahepatic Cholestasis Syndrome

　　1. During pregnancy, it is advisable to eat nutritious, non-greasy, and easily digestible foods, such as fresh vegetables, fruits, lean meat, eggs, river fish, and milk.

　　2. Avoid spicy, pungent, and hot foods as well as seafood and irritants, such as chili, garlic, tobacco and alcohol, seafood, shrimp and crab, mutton, etc.

　　3. Various fried, baked, grilled, and roasted foods, as well as snacks, can help generate fire, dampness, and wind, and should be avoided, such as roasted chicken, roasted duck, smoked fish and meat, and peanuts, melons, etc.

　　(The above information is for reference only, please consult a doctor for details.)

　　1. Treatment for the Underlying Etiology

　　For fatal intrahepatic cholestasis syndrome with clear basic etiology, efforts should be made to achieve radical cure or control the underlying disease if possible. For obstructions caused by tumors or stones, radical tumor resection or ERCP for stone removal can be performed; repairing biliary stricture can restore biliary drainage; immunosuppressants may be effective for immune-mediated injury to bile ductules; for drug-induced cholestasis, it is recommended to discontinue the relevant drugs in a timely manner.

　　2. Supportive and Symptomatic Treatment

　　Ursodeoxycholic acid, phosphatidylcholine capsules, adenosine methionine, phenobarbital. Traditional Chinese medicine preparations have the effects of promoting bile excretion and reducing enzymes, such as bupleurum, white peony, artemisia, salvia miltiorrhiza, etc.; for the treatment of itching, it is recommended to supplement fat-soluble vitamins, calcium, and vitamin D.

　　3. Liver Transplantation

　　For certain types of end-stage fatal intrahepatic cholestasis syndrome diseases such as primary biliary cirrhosis (PBS), primary sclerosing cholangitis (PSC), and biliary atresia patients, the one-year survival rate is about 90%.