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Treatment of Severe Unconjugated Hyperbilirubinemia with Phenobarbitone in Two First-Degree Siblings with Crigler-Najjar Syndrome (CNS) Type 2: A Success Story

Background: Crigler–Najjar syndrome (CNS) type 2 is a rare autosomal recessive disorder of bilirubin conjugation caused by mutations in the UGT1A1 gene. It presents in infancy with unconjugated hyperbilirubinemia that does not respond to phototherapy but improves with phenobarbitone, which enhances...

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Principais autores: Sachin Kumar, Siddhavatam Rahul Karthik, Gandharav Pahuja, Sarthak Chakrabarti, Prateek Kumar Panda, Indar Kumar Sharawat
Format: Artigo
Sprog:Inglês
Udgivet: Indonesian Society of Pediatric Gastroenterology, Hepatology, and Nutrition 2025-11-01
Serier:Archives of Pediatric Gastroenterology, Hepatology, and Nutrition
Fag:
crigler-najjar syndrome type 2
gene therapy
neonatal jaundice
phenobarbitone
Online adgang:http://www.apghn.com/index.php/journal/article/view/112
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