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Jaundice liver pigmentation syndrome in children
Introduction
Brief introduction of hepatic pigmentation syndrome in children with jaundice Dubin-Johnson Syndrome (Dubin-Johnson Syndrome), also known as Dubin-Johnson syndrome, Dubin-Sprinz syndrome, Sprinz-Nelson syndrome, congenital non-hemolytic jaundice, congenital non-hemolytic jaundice type I, congenital non- Hemolytic jaundice direct bilirubin increased type I, black liver jaundice syndrome, etc., is autosomal dominant inheritance, has a family history, clinical features of intermittent jaundice. basic knowledge The proportion of illness: 0.001% Susceptible people: young children Mode of infection: non-infectious Complications: jaundice
Cause
Pediatric jaundice hepatic pigmentation syndrome etiology
Causes:
The disease is autosomal dominant, caused by congenital defects in the transport of bilirubin in hepatocytes.
Pathogenesis:
When the jaundice occurs, the serum-binding bilirubin is increased. The reason is that unconjugated bilirubin in the hepatocytes after the formation of bilirubin binding, transport in the liver cells and excretion to the capillary bile duct occurs congenital defects, resulting in gallbladder The erythropoietin does not reach the bile duct and flows back into the blood, causing the combined bilirubin and unconjugated bilirubin to increase in the blood and form bilirubinuria.
Prevention
Prevention of hepatic pigmentation syndrome in children with jaundice
The disease is a hereditary disease with a family history, and should focus on the consultation of hereditary diseases.
1. Premarital health checkup. Men and women who have been determined to have a relationship should undergo a comprehensive system of health checks before proceeding with the marriage registration process. In particular, it is important to avoid close relatives getting married. Offspring of close relatives who suffer from mental retardation, congenital malformations, and various genetic diseases are several times more likely to marry than non-close relatives. 2. Genetic counseling before pregnancy. Both men and women or one party, if there are genetically ill patients in their relatives, are worried about whether they will have the same genetic disease after marriage, they should be consulted whether they can get married, if the consequences of marriage are serious; one of the two parties has a certain disease, but I do not know Is there a chance of getting a genetic disease, can it be married, and passed on to future generations? The doctor will make a clear diagnosis and give a reasonable treatment. 3. Prenatal screening to avoid the birth of the child. Prenatal screening is mainly for diseases that currently have no good treatment, and the purpose is to prevent the birth of defective children. Usually in the 16th to 20th week of pregnancy, 2-3 ml of peripheral blood of pregnant women should be examined. If the risk of high risk is found (high risk factor exceeds 1/270), further amniocentesis should be taken to confirm the diagnosis.Complication
Pediatric jaundice hepatic pigmentation syndrome complications Complications
Hepatomegaly and liver damage.
Symptom
Pediatric jaundice hepatic pigmentation syndrome symptoms common symptoms bilirubin increased hepatomegaly jaundice neonatal breastfeeding...
Chronic intermittent jaundice, liver tenderness or tenderness, mild hepatomegaly, strenuous activity, deepening of jaundice after infection, laboratory tests for elevated serum bilirubin and liver damage.
Examine
Examination of hepatic pigmentation syndrome in children with jaundice
1. The bilirubin increased laboratory examination showed that the total serum bilirubin was 68.4~153.9mol/L, and the direct bilirubin content was 26%-86%.
2. Liver function tests were positive for half of the brain and turbidity.
3. Sulfonium bromide excretion test 45 minutes after injection, the retention is often 10% to 20%, 60min and 120min retention is more than 45min.
4. Urine examination increased urinary bilirubin.
Should do abdominal B-ultrasound examination, there may be liver enlargement.
Diagnosis
Diagnosis and differential diagnosis of hepatic pigmentation syndrome in children with jaundice
According to the characteristics of clinical manifestations and laboratory tests, liver biopsy can confirm the diagnosis of brown pigment.
Identification with jaundice hepatitis, laboratory tests and clinical features can help identify.
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