临床肝胆病杂志2024，Vol.40Issue(10)：2075-2078,4.DOI:10.12449/JCH241023
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
摘要
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
吕飒,朱冰,徐天娇,游绍莉..BCHE基因复合杂合突变引起胆碱酯酶极度降低1例报告[J].临床肝胆病杂志,2024,40(10):2075-2078,4.基金项目
联勤保障部队科研项目(LB20211A010024) Joint Logistics Support Force Scientific Research Project(LB20211A010024) （LB20211A010024）
