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

作　　者：吕飒 朱冰 徐天娇 游绍莉 LYU Sa;ZHU Bing;XU Tianjiao;YOU Shaoli(Senior Department of Hepatology,The Fifth Medical Center of Chinese PLA General Hospital,Beijing 100039,China)

机构地区：[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

出　　处：《临床肝胆病杂志》2024年第10期2075-2078,共4页Journal of Clinical Hepatology

基　　金：联勤保障部队科研项目(LB20211A010024)。

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。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 

分 类 号：R596[医药卫生—内科学]