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Abstract：
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)).
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)).
摘要：
这项研究试图描述患者的表型和基因型特征，这些患者被转介给我们的实验室进行进一步评估，原因是怀疑由于BChE缺乏症引起的suxamethium的长期作用。
本研究包括2016年1月至2019年12月因怀疑甲胺铵的长期作用而转诊至我们实验室的所有患者。使用具有侧翼内含子-外显子边界的整个互补DNA编码区的完整核苷酸测序，完成了BChE活性的测定和基因分型。
在这四年期间,58名患者被转诊到我们的实验室，以研究由于BChE缺乏而导致的长时间神经肌肉阻滞。其中,图52显示与BCHE基因突变相关的BChE缺陷。最常见的基因型是复合纯合非典型变体（p。Asp98Gly）/纯合Kalow变体（p。Ala569Thr）（p。[Asp98Gly；Ala567Thr]；[p.Asp98Gly;Ala567Thr])。Further,我们记录了四个新的BCHE变种,这似乎与延长后的甲胺停息有关：p。(Trp205Cys)，p.(Leu222His)，p.(Glu469Gln)，和p.（Lys276Ter）。
在四年期间，在转诊到我们实验室的58名患者中，我们发现了四种新的BCHE变体,这似乎与舒沙姆塞后呼吸暂停延长有关(第（Trp205Cys），p.（Leu22His），p.(Glu469Gln)，和p.（Lys276Ter））。
本研究包括2016年1月至2019年12月因怀疑甲胺铵的长期作用而转诊至我们实验室的所有患者。使用具有侧翼内含子-外显子边界的整个互补DNA编码区的完整核苷酸测序，完成了BChE活性的测定和基因分型。
在这四年期间,58名患者被转诊到我们的实验室，以研究由于BChE缺乏而导致的长时间神经肌肉阻滞。其中,图52显示与BCHE基因突变相关的BChE缺陷。最常见的基因型是复合纯合非典型变体（p。Asp98Gly）/纯合Kalow变体（p。Ala569Thr）（p。[Asp98Gly；Ala567Thr]；[p.Asp98Gly;Ala567Thr])。Further,我们记录了四个新的BCHE变种,这似乎与延长后的甲胺停息有关：p。(Trp205Cys)，p.(Leu222His)，p.(Glu469Gln)，和p.（Lys276Ter）。
在四年期间，在转诊到我们实验室的58名患者中，我们发现了四种新的BCHE变体,这似乎与舒沙姆塞后呼吸暂停延长有关(第（Trp205Cys），p.（Leu22His），p.(Glu469Gln)，和p.（Lys276Ter））。
