The extreme reduction in cholinesterase caused by compound heterozygous mutations in the BCHE gene： A case report
Journal Title: Journal of Clinical Hepatology - Year 2024, Vol 40, Issue 10
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.
Authors and Affiliations
Sa LYU, Bing ZHU, Tianjiao XU, Shaoli YOU
Keywords
Related Articles
- EP ID EP751066
- DOI 10.12449/JCH241023
- Views 45
- Downloads 0
Molecular mechanism of lenvatinib resistance in hepatocellular carcinoma
Hepatocellular carcinoma is the most common malignancy of the liver and poses serious health burdens on China and the whole world. However， most patients with hepatocellular carcinoma are already in the advanced stage a...
Influencing factors for rebleeding after endoscopic therapy in patients with liver cirrhosis receiving secondary prevention of gastroesophageal varices
[Objective] To investigate the influencing factors for rebleeding after endoscopic therapy and the effect of the number of sequential treatment sessions on postoperative rebleeding in patients with liver cirrhosis receiv...
Research advances in traditional Chinese medicine syndromes of fatty liver disease
Fatty liver disease can be classified into alcoholic fatty liver disease and nonalcoholic fatty liver disease based on etiology， and it has become the most important liver disease worldwide. Due to the differences in th...
Efficacy of des-γ-carboxy-prothrombin in the diagnosis of hepatocellular carcinoma and its association with the clinical features of hepatocellular carcinoma
[Objective] To investigate the value of des-γ-carboxy-prothrombin （DCP） in hepatocellular carcinoma （HCC）. [Methods] A retrospective analysis was performed for the clinical data of 179 HCC patients who were admitted...
Value of modified albumin-bilirubin grade in predicting the prognosis of patients with Child-Pugh class A unresectable hepatocellular carcinoma after transcatheter arterial chemoembolization combined with immunotherapy and anti-angiogenic drugs
[Objective] To investigate the ability of the modified albumin-bilirubin （mALBI） grade in predicting the prognosis of patients with Child-Pugh A unresectable hepatocellular carcinoma （uHCC） after transcatheter arteri...