Journal of Clinical and Translational Hepatology

Journal of Clinical and Translational Hepatology

Friday, 05 / 14 / 2021

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Abstract

ORIGINAL ARTICLE

UGT1A1-related Bilirubin Encephalopathy/Kernicterus in Adults

Jie Bai1,2,#, Lu Li1,#, Hui Liu3, Shuang Liu2, Li Bai2Wenyan Song4, Yu Chen1,2, Sujun Zheng1,2,* and Zhongping Duan1,2,*

1  Fourth Department of Liver Disease (Difficult & Complicated Liver Diseases and Artificial Liver Center), Beijing You’an Hospital Affiliated to Capital Medical University, Beijing, China
2  Beijing Municipal Key Laboratory of Liver Failure and Artificial Liver Treatment Research, Beijing, China
3  Department of Pathology, Beijing You’an Hospital, Capital Medical University, Beijing, China
4  Department of Radiology, Beijing You’an Hospital, Capital Medical University, Beijing, China
#These authors contributed equally to this work.
*Correspondence to: Sujun Zheng and Zhongping Duan, Fourth Department of Liver Disease (Difficult & Complicated Liver Diseases and Artificial Liver Center), Beijing You’an Hospital Affiliated to Capital Medical University, No. 8, Xitoutiao, You’anmen, Fengtai District, Beijing 100069, China. ORCID: https://orcid.org/0000-0002-6367-5764(SZ). Tel: +86-10-83997127, E-mail: This email address is being protected from spambots. You need JavaScript enabled to view it. (SZ); Tel: +86-10-63291007, E-mail:  This email address is being protected from spambots. You need JavaScript enabled to view it. (ZD)

Journal of Clinical and Translational Hepatology 2021;9(2):180-186 DOI: 10.14218/JCTH.2020.00108
Received: November 12, 2020 Accepted: February 4, 2021 Published online: March 11, 2021

Abstract

Background and Aims: Bilirubin encephalopathy/kernicterus is very rare in adults. This study is aimed to investigate the clinical manifestations and genetic features of two patients with UGT1A1-related kernicterus.

Methods: Sanger sequencing analysis was performed to identify UGT1A1 gene mutations in the patients and their families. Bioinformatics analysis was used to predict the potential functional effects of novel missense mutations. Clinical manifestations and biochemical parameters were collected and analyzed.

Results: Two patients with Crigler-Najjar syndrome type II (CNS2) developed kernicterus in adulthood. Sanger sequencing identified a compound heterozygous mutation in the UGT1A1 gene in patient 1, which was inherited from his mother (G71R) and his father (c.-3279T>G; S191F). Patient 2 carried three heterozygous mutations, namely G71R, R209W and M391K; among which, the M391K mutation has not been reported before. Multiple prediction software showed that the M391K mutation was pathogenic. Symptoms were relieved in the two patients after phenobarbital and artificial liver support treatment. Patient 1 also underwent liver transplantation.

Conclusions: Adults with CNS2 are at risk for kernicterus. Phenobarbital treatment is beneficial for maintaining bilirubin levels and preventing kernicterus.

Keywords

Kernicterus, UGT1A1, Crigler-Najjar syndrome type II, Phenobarbital

Journal of Clinical and Translational Hepatology 2021 vol. 9, 180-186  [ Html  ] [ PDF Full-text ]

© 2021 Authors. This is an Open Access article distributed under the terms of the  Creative Commons Attribution-Noncommercial 4.0 License(CC BY-NC 4.0), permitting all non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

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