罕见乙肝病毒感染合并非肝脏合成功能障碍所致的胆碱酯酶极度降低2例个案报道并文献复习

柏保利; 匡小林; 胡明芬; 常国楫; 张露; 李生浩; 王晴晴

doi:10.12259/j.issn.2095-610X.S20231210

罕见乙肝病毒感染合并非肝脏合成功能障碍所致的胆碱酯酶极度降低2例个案报道并文献复习

doi: 10.12259/j.issn.2095-610X.S20231210

1.
云南省传染性疾病临床医学中心/昆明市第三人民医院肝病综合科，云南昆明　650031
2.
大理大学公共卫生学院，云南大理　671000

基金项目: 国家自然科学基金资助项目（82260408）；云南省科技厅基础研究专项面上基金资助项目（202101AT070054）；昆明市社会发展与科技惠民计划基金资助项目（2023-1-NS-002）；昆明市卫健委卫生科研课题基金资助项目（2022-03-08-005；2022-03-08-011）

详细信息

作者简介:
柏保利（1982～），女，湖南祁阳人，医学硕士，主治医师，主要从事肝脏疾病临床诊治及研究工作

匡小林与柏保利对本文有同等贡献

通讯作者:
李生浩，E-mail：doctorlee3h@163.com

王晴晴，E-mail：wangqingqing1511@163.com

中图分类号: R512.6⁺2
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出版历程
- 收稿日期: 2023-07-31
- 网络出版日期: 2023-12-20
- 刊出日期: 2023-12-25

Rare Cases of Hepatitis B Virus Infection Combined with Severe Cholinesterase Deficiency not Caused by Liver Dysfunction: Two Case Reports and Literature Review

1.
Dept. of Hepatology，Yunnan Clinical Center for Infectious Diseases/The 3rd People's Hospital of Kunming，Kunming Yunnan 650031
2.
School of Public Health，Dali University，Dali Yunnan 671000，China

摘要

摘要: 目的分析乙肝病毒感染合并非肝脏合成功能障碍所致的胆碱酯酶（CHE）极度降低的罕见病例，探讨其临床意义。方法收集2021年7月和2022年2月在昆明市第三人民医院住院的2例罕见病例的临床资料，包括肝功能、凝血功能、乙肝标记物、乙肝病毒量、全外显子测序等进行分析，并作文献复习。结果 2例乙肝病毒感染患者均长期CHE极度降低，肝脏合成功能良好，全外显子测序均显示存在血清胆碱酯酶（BCHE）基因突变。结论案例CHE极度低下并非是肝脏合成功能障碍所致。全外显子测序检出了2例患者的BCHE基因突变，非肝脏合成功能障碍所致的胆碱酯酶极度降低患者，进行BCHE基因突变筛查可能是必要的。
- 胆碱酯酶 /
- 丁酰胆碱酯酶缺乏症 /
- 假性胆碱酯酶 /
- 遗传代谢肝病
Abstract: Objective To analyze the hepatitis B virus infection with extreme reduction of cholinesterase（CHE） not caused by liver synthesis dysfunction, and to explore its clinical significance. Methods The clinical data of 2 rare cases hospitalized in the 3rd people’ s hospital of Kunming in July 2021 and February 2022, including liver function, coagulation function, hepatitis B markers, hepatitis B virus volume, and whole exon sequencing, were collected and analyzed, and literature was reviewed. Results CHE was extremely reduced in 2 patients with HBV infection, liver synthesis function was good, and whole exon sequencing showed the presence of butyrylcholinesterase（BCHE） gene mutation. Conclusion The extremely low CHE in this case is not due to liver function disorder. Exon sequencing detected mutations in the BCHE gene in two patients. Screening for BCHE mutations may be necessary in patients with extremely low cholinesterase levels not due to liver dysfunction.
- Cholinesterase /
- Butyrylcholinesterase deficiency /
- Pseudocholinesterase /
- Hereditary metabolic liver disease

HTML全文

图 1 病例1的全外显子测序及家系验证图谱

BCHE基因发生2个突变，分别为NM_000055:exon2: c.1240C>T: p.Arg414Cys和NM_000055:exon2:c.401dup: p.Asn134LysfsTer24。蓝色阴影为发生基因突变的位点。

Figure 1. Whole exon sequencing and family verification of case 1

下载: 全尺寸图片幻灯片

图 2 人类BCHE基因图谱及常见的物种突变情况^[5]

Figure 2. Human BCHE gene map and common species mutations

下载: 全尺寸图片幻灯片

表 1 病例2全外显子测序检出的BCHE基因突变情况

Table 1. BCHE gene mutations detected by whole exon sequencing in case 2

基因（参考序列）	变异	染色体位置	变异频率
BCHE（NM_000055.2）	c.1699G>A（p.A567T）纯合变异	Chr3:165491280	0.1137
BCHE（NM_000055.2）	c.1177G>C（p.G393R）杂合变异	Chr3:165547645	0.0017

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