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Crigler-Najjar type II in pregnancy: A case report.
Katherine Creeper1, Dorothy Graham1,2
1Department of Obstetric Medicine, King Edward Memorial Hospital for Women, Subiaco, Australia.
Obstetric Medicine
|September 18, 2023
Summary
Crigler-Najjar syndrome Type II is a rare disorder affecting bilirubin metabolism. Phenobarbitone treatment during pregnancy led to favorable outcomes for both mother and child, with no reported long-term neurological issues.
Area of Science:
- Genetics and Genetic Disorders
- Hepatology
- Maternal-Fetal Medicine
Background:
- Crigler-Najjar syndrome is a rare, autosomal recessive disorder characterized by absent or deficient hepatic uridine diphospho-glucuronosyl transferase (UDPGT) enzyme activity.
- This enzyme deficiency leads to unconjugated hyperbilirubinemia, posing risks of kernicterus and mortality.
- Crigler-Najjar syndrome Type II, a milder form, may benefit from enzyme induction therapy.
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