What about kringle Nagar syndrome?

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Klinigler Najar syndrome, also known as congenital glucuronosyltransferase deficiency and congenital non obstructive non hemolytic jaundice, is a rare hereditary hyperbilirubinemia in neonates and infants. What about kringle Nagar syndrome?

What about kringle Nagar syndrome?

Krigler Nagar syndrome type I, first reported by crigler in 1952, is an autosomal recessive inheritance. Most of the parents are consanguineous. There was a complete lack of glucuronyltransferase in the liver cells of the children, which could not form conjugated bilirubin, resulting in a significant increase of unconjugated bilirubin in the blood. High fat soluble unconjugated bilirubin diffuses into cerebrospinal fluid and brain parenchyma through immature blood cerebrospinal fluid barrier, leading to bilirubin encephalopathy.

Type I is rare and first reported by crigler Najjar in 1952. The patient was homozygous for the criglel Najjar gene. Jaundice occurs rapidly after birth. Jaundice usually occurs 1-4 days after birth. The concentration of bilirubin can be as high as 289-816 μ 90% of them were unconjugated bilirubin; Due to the affinity of unconjugated bilirubin to brain tissue, neonatal bilirubin encephalopathy often occurs within 2 weeks of birth, such as muscle spasm, ankylosis, convulsion, and tetanus. The patient had no hemolysis, the bile was colorless and bilirubin free, and the cholecystography was normal.

The diagnosis of type I was mainly based on the increase of serum unconjugated bilirubin and no evidence of hemolysis. Liver function and liver biopsy were normal. Type II: due to partial deficiency of BGT in the liver, phenobarbital treatment can reduce the serum bilirubin concentration. In clinical practice, we can distinguish type I or type II Krieger Nagar syndrome according to its therapeutic response to enzyme inducers.

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Most of the patients died of bilirubin encephalopathy or sequelae within 18 months after birth. A few jaundices last for life. The prognosis of type II is better than that of type I. mild patients may survive to adulthood.