Service d'Anesthésie et Soins Continus, Institut Gustave Roussy, 114, Rue Édouard-Vaillant, 94805 Villejuif Cedex, France.
Université de Paris & APHP. Nord, DMU PARABOL, Hôpital Saint-Louis, service d'anesthésie, de réanimation et centre de traitement des brûlés, 1, avenue Claude Vellefaux 75010 Paris, France.
Anaesth Crit Care Pain Med. 2021 Apr;40(2):100847. doi: 10.1016/j.accpm.2021.100847. Epub 2021 Mar 24.
This study sought to describe the phenotype and genotype characteristics of patients referred to our laboratory to undergo further assessment due to a suspicion of a prolonged effect of suxamethonium attributed to BChE deficiency.
All patients referred to our laboratory from January 2016 to December 2019 due to the suspicion of a prolonged effect of suxamethonium were included in this study. The determination of BChE activity and genotyping using complete nucleotide sequencing of the entire complementary DNA-coding region with flanking intron-exon boundaries were completed.
During this four-year period, 58 patients were referred to our laboratory for the investigation of prolonged neuromuscular block due to BChE deficiency. Among them, 52 showed a BChE deficiency related to BCHE gene mutations. The most commonly detected genotype was compound homozygous atypical variant (p.Asp98Gly)/homozygous Kalow variant (p.Ala569Thr) (p.[Asp98Gly;Ala567Thr];[p.Asp98Gly;Ala567Thr]). Further, we recorded four new BCHE variants, which seem to be associated with prolonged post suxamethonium apnoea: p.(Trp205Cys), p.(Leu222His), p.(Glu469Gln), and p.(Lys276Ter).
During a four-year period, among the 58 patients referred to our laboratory, we have found four new BCHE variants, which seem to be associated with prolonged post suxamethonium apnoea (p.(Trp205Cys), p.(Leu22His), p.(Glu469Gln), and p.(Lys276Ter)).
本研究旨在描述因怀疑琥珀胆碱作用延长而致 BChE 缺乏，转诊至本实验室进一步评估的患者的表型和基因型特征。
本研究纳入了 2016 年 1 月至 2019 年 12 月期间因怀疑琥珀胆碱作用延长而转诊至本实验室的所有患者。完成了 BChE 活性测定和完整 cDNA 编码区的核苷酸测序及侧翼内含子-外显子边界的基因分型。
在这四年期间，有 58 例患者因 BChE 缺乏致神经肌肉阻滞延长而转诊至本实验室进行研究。其中 52 例患者表现为与 BCHE 基因突变相关的 BChE 缺乏。最常见的检测基因型为复合纯合型非典型变异体（p.Asp98Gly）/纯合型 Kalow 变异体（p.Ala569Thr）（p.[Asp98Gly;Ala567Thr];[p.Asp98Gly;Ala567Thr]）。此外，我们还记录了四个似乎与琥珀胆碱后呼吸暂停延长相关的新 BCHE 变体：p.(Trp205Cys)、p.(Leu222His)、p.(Glu469Gln)和 p.(Lys276Ter)。
在四年期间，我们在转诊至本实验室的 58 例患者中发现了四个新的 BCHE 变体，这些变体似乎与琥珀胆碱后呼吸暂停延长有关（p.(Trp205Cys)、p.(Leu22His)、p.(Glu469Gln)和 p.(Lys276Ter)）。
