Review on Crigler-Najjar syndrome and uridine diphosphate glucuronosyl transferase 1A1 gene mutation

YAN Yue; LI Ya-rong

doi:10.11852/zgetbjzz2019-1420

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Chinese Journal of Child Health Care ›› 2020, Vol. 28 ›› Issue (8) : 887-889. DOI: 10.11852/zgetbjzz2019-1420

Review on Crigler-Najjar syndrome and uridine diphosphate glucuronosyl transferase 1A1 gene mutation

YAN Yue, LI Ya-rong

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Abstract

Crigler-Najjar Syndrome (CNS) is congenital, non-obstructive, non-hemolytic, hyperunbound bilirubinemia, which is characterized by a completed or near-total deficiency of uridine diphosphate glucuronosyl transferase 1A1 (UGT1A1) in liver cells.The preliminary diagnosis of CNS is mainly based on clinical manifestations and laboratory examination.After that, the diagnosis can be made by combining genetic testing, analysis of bile components and determination of UGT1A1 activity in liver tissues.CNS and UGT1A1 gene polymorphisms are of great significance in the metabolism of multiple drugs and the pathogenesis of multiple diseases.Even if the mechanism and specific effects of the genes are not qualitatively and quantitatively evaluated, clear diagnosis is of great significance for clinical guidance.This review summarizes the clinical diagnosis and treatment of CNS and the relationship between UGT1A1 gene mutations and CNS.

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uridine diphosphate glucuronic transferase 1A1 / genetic mutations / Crigler-Najjar syndrome

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YAN Yue, LI Ya-rong. Review on Crigler-Najjar syndrome and uridine diphosphate glucuronosyl transferase 1A1 gene mutation[J]. Chinese Journal of Child Health Care. 2020, 28(8): 887-889 https://doi.org/10.11852/zgetbjzz2019-1420

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