Article

Therapeutic Options for Crigler-Najjar Syndrome: A Scoping Review

2024-09-17

Abstract excerpt

Crigler-Najjar Syndrome (CNS) is a rare genetic disorder caused by mutations in the UGT1A1 gene, leading to impaired bilirubin conjugation and severe unconjugated hyperbilirubinemia. CNS presents in two forms: CNS type 1 (CNS1), the more severe form with a complete absence of UGT1A1 activity, and CNS type 2 (CNS2), with partial enzyme activity. CNS1 requires aggressive management, including phototherapy and plasma...

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Literature Corpus work: 7894ad26-697c-53b5-ba6b-ce39663936eb
DOI: 10.20944/preprints202409.1267.v1

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