Fatal intrahepatic cholestasis syndrome

Introduction to fatal intrahepatic cholestasis syndrome Fatal intrahepatic cholestasis syndrome, also known as Byler disease; Fatal Familial Intrahepatic Cholestasis Syndrome; Familial intrahepatic cholestasis of jaundice; Infant bile viscous syndrome; Type IV-progressive intrahepatic deposition disease. basic knowledge The proportion of illness: 0.003% Susceptible people: good for newborns Mode of infection: non-infectious Complications: cholestatic jaundice, fatal intrahepatic cholestasis syndrome, intrahepatic cholestasis of pregnancy, neonatal persistent cholestasis jaundice

Causes of fatal intrahepatic cholestasis syndrome

Department of autosomal recessive inheritance, may be due to congenital hereditary biochemical metabolism abnormalities, causing bile acid metabolism, transport and excretion disorders caused by cholestasis.

Lethal intrahepatic cholestasis syndrome prevention

Autosomal recessive inheritance, no effective preventive measures. That is to say, influenced by the genetics of the parents themselves, it is a factor that cannot be changed by human medicine. However, reasonable genetic counseling, strengthening maternal health care, and reducing the pregnancy rate of elderly women are effective measures to reduce the disease. Clinicians can give health advice based on the previous maternal history of the child's parents, strengthen perinatal care if necessary, actively strive for prenatal diagnosis, and avoid birth of children with developmental defects as much as possible.

Fatal intrahepatic cholestasis syndrome complications Complications, cholestatic jaundice, lethal intrahepatic cholestasis syndrome, intrahepatic cholestasis of pregnancy, neonatal persistent cholestasis jaundice

Patients often have irritability, malabsorption, dysplasia, rickets and other diseases.

Symptoms of fatal intrahepatic cholestasis syndrome Common symptoms Fat sputum, sputum, fat, liver splenomegaly, irritability, biliary retention, skin itching

The disease is rare, repeated jaundice in the neonatal period; and deepening, itchy skin, nasal discharge, hepatosplenomegaly, fat sputum, fecal odor and pale; can also occur jaundice a few months after birth, patients irritability Uneasy, malabsorption, dysplasia, rickets.

Examination of fatal intrahepatic cholestasis syndrome

Serum total bilirubin increased, combined with increased bilirubin, serum alkaline phosphatase increased, normal or reduced cholesterol, prolonged prothrombin time; urinary bilirubin positive; stool with fat globules.

Diagnosis and differentiation of fatal intrahepatic cholestasis syndrome

diagnosis

In the family with blood relationship, recurrent jaundice, steatorrhea, hepatosplenomegaly and dwarfism should be considered in the early stage of infants. Laboratory tests and liver biopsy should help the diagnosis of this disease.

Differential diagnosis

Pay attention to the identification of congenital jaundice in other infants and young children.

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