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VOLUME 1 , ISSUE 3 ( September-December, 2022 ) > List of Articles
Neeraj Kumar, Babli Kumari, Sarfaraz Ahmad
Keywords : Crigler–Najjar syndrome, Hyperbilirubinemia in young adult, Unconjugated hyperbilirubin
Citation Information : Kumar N, Kumari B, Ahmad S. An Unusual Case of Type I Crigler–Najjar Disease in a Young Adult: A Case Report. 2022; 1 (3):151-153.
License: CC BY-NC 4.0
Published Online: 03-05-2023
Copyright Statement: Copyright © 2022; The Author(s).
Crigler-Najjar syndrome (CNS) is a genetic disorder. It has a mostly autosomal recessive pattern of inheritance. Unconjugated to conjugated bilirubin conversion in the liver requires the enzyme Uridine 5’-diphosphate-glucuronosyltransferase (UDP-glucuronosyltransferase), which is absent or exhibits low activity in CNS. It is a significant contributor to congenital nonhemolytic jaundice. Following an aberrant gene mutation causes an increase in the bilirubin burden in the blood and is inherited within families. We present a case of a 22-year-old man who has had type I CNS since birth. There is minimal neurological damage, but there is a considerable increase in unconjugated bilirubin. Phenobarbital therapy had no impact on the reduction of bilirubin load. The primary goal is to reduce unconjugated bilirubin, although liver transplantation is the only curative treatment option for type I CNS.