The extreme reduction in cholinesterase caused by compound heterozygous mutations in the BCHE gene： A case report
- VernacularTitle:BCHE基因复合杂合突变引起胆碱酯酶极度降低1例报告
- Author:
Sa LYU
1
;
Bing ZHU
1
;
Tianjiao XU
1
;
Shaoli YOU
1
Author Information
- Publication Type:Case Reports
- Keywords: Butyrylcholinesterase; BCHE gene; Genetic Diseases， Inborn; Mutation
- From: Journal of Clinical Hepatology 2024;40(10):2075-2078
- CountryChina
- Language:Chinese
- 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.
