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成人相关性胆红素脑病/核黄疸

-related Bilirubin Encephalopathy/Kernicterus in Adults.

作者信息

Bai Jie, Li Lu, Liu Hui, Liu Shuang, Bai Li, Song Wenyan, Chen Yu, Zheng Sujun, Duan Zhongping

机构信息

Fourth Department of Liver Disease (Difficult & Complicated Liver Diseases and Artificial Liver Center), Beijing You'an Hospital Affiliated to Capital Medical University, Beijing, China.

Beijing Municipal Key Laboratory of Liver Failure and Artificial Liver Treatment Research, Beijing, China.

出版信息

J Clin Transl Hepatol. 2021 Apr 28;9(2):180-186. doi: 10.14218/JCTH.2020.00108. Epub 2021 Mar 11.

DOI:10.14218/JCTH.2020.00108
PMID:34007799
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8111108/
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 -related kernicterus.

METHODS

Sanger sequencing analysis was performed to identify 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 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.

摘要

背景与目的

胆红素脑病/核黄疸在成人中非常罕见。本研究旨在调查两名与核黄疸相关患者的临床表现和基因特征。

方法

采用桑格测序分析来鉴定患者及其家族中的基因突变。利用生物信息学分析预测新错义突变的潜在功能影响。收集并分析临床表现和生化参数。

结果

两名II型克里格勒-纳贾尔综合征（CNS2）患者在成年后发生核黄疸。桑格测序在患者1的基因中鉴定出复合杂合突变，该突变分别遗传自其母亲（G71R）和父亲（c.-3279T>G；S191F）。患者2携带三个杂合突变，即G71R、R209W和M391K；其中，M391K突变此前未见报道。多种预测软件显示M391K突变具有致病性。两名患者经苯巴比妥和人工肝支持治疗后症状缓解。患者1还接受了肝移植。

结论

患有CNS2的成人有发生核黄疸的风险。苯巴比妥治疗有助于维持胆红素水平并预防核黄疸。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5397/8111108/614cde6cb13a/JCTH-9-180-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5397/8111108/a3a7c4d7b9a3/JCTH-9-180-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5397/8111108/76ce6ac60089/JCTH-9-180-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5397/8111108/8c0fd04d9a28/JCTH-9-180-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5397/8111108/3d8d6d4c5d24/JCTH-9-180-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5397/8111108/614cde6cb13a/JCTH-9-180-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5397/8111108/a3a7c4d7b9a3/JCTH-9-180-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5397/8111108/76ce6ac60089/JCTH-9-180-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5397/8111108/8c0fd04d9a28/JCTH-9-180-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5397/8111108/3d8d6d4c5d24/JCTH-9-180-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5397/8111108/614cde6cb13a/JCTH-9-180-g005.jpg

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