BCHE基因复合杂合突变引起胆碱酯酶极度降低1例报告
The extreme reduction in cholinesterase caused by compound heterozygous mutations in the BCHE gene:A case report
吕飒 1朱冰 1徐天娇 1游绍莉1
作者信息
- 1. 中国人民解放军总医院第五医学中心肝病医学部,北京 100039
- 折叠
摘要
血清胆碱酯酶(ChE)水平对于肝脏疾病、中毒性疾病等多种疾病的诊断、预后判断有重要意义,丁酰胆碱酯酶是其中重要的组成成分.BCHE基因突变可引起丁酰胆碱酯酶水平明显下降,在欧美人群报道较多,但在东方尤其中国报道较少.本研究描述了1例35岁男性因ChE水平极度降低被误诊为有机磷农药中毒并给予解毒治疗,但经过多项生化检查排除,最终通过基因全外显子测序及Sanger测序,确认为BCHE基因2号外显子存在c.1027dup和c.401dup两处复合杂合突变,所致的遗传性丁酰胆碱酯酶缺乏症是其外周血ChE水平极度降低的原因.
Abstract
Serum cholinesterase(ChE)level is important for the diagnosis and prognostic evaluation of various diseases such as liver diseases and toxic diseases,and butyrylcholinesterase(BuChE)is an important component of ChE.Mutations in the BCHE gene can cause a significant reduction in the level of BuChE,with extensive reports in European and American populations and relatively few reports in Eastern countries,particularly China.This study describes a male patient,aged 35 years,who was misdiagnosed with organophosphorus pesticide poisoning due to an extreme reduction in ChE level and was given detoxification therapy,but such diagnosis was excluded by various biochemical examinations.Finally whole-exome sequencing and Sanger sequencing revealed the complex heterozygous mutations of c.1027dup and c.401dup at exon 2 of the BCHE gene,and hereditary BuChE deficiency due to these mutations is the cause of the extreme reduction in ChE level.
关键词
丁酰胆碱酯酶/BCHE基因/遗传性疾病,先天性/突变Key words
Butyrylcholinesterase/BCHE gene/Genetic Diseases,Inborn/Mutation引用本文复制引用
基金项目
联勤保障部队科研项目(LB20211A010024)
出版年
2024
国家科技期刊平台
NSTL
万方数据