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Abstract：
Variants of butyrylcholinesterase are frequently associated with prolonged response to suxamethonium or mivacurium. Butyrylcholinesterase (BChE) can be characterized by phenotyping and determination of genotype. Inappropriate timing of blood sampling might interfere with phenotyping methods. However, guidelines regarding delay between exposure to anaesthesia and testing are not clearly defined. In this study, the BChE activity and phenotype in an early (T1) and late (T2) phase were compared and the phenotype/genotype correlation was assessed.
Patients with a prolonged paralysis after mivacurium or suxamethonium were selected after ethical committee approval and written consent. BChE activity was based on butyrylthiocholine hydrolysis rate and phenotyping on differential inhibition of BChE activity with dibucaine and fluoride. DNA sequencing allowed genotypic characterization.
We included the results of 20 patients with prolonged neuromuscular block (NMB) induced by mivacurium or suxamethonium. In these patients, BChE activity was different at T1 and T2 (2120 [1506-2733] U L-1 and 4055 [2810-5301] U L-1 , respectively; P = 0.0014; values are mean [95% CI]). When phenotyping was possible, phenotyping at T1 and T2 yielded identical results. Phenotyping failed to identify one new variant (p.Tyr146Cys) and the K variant in 14 of 16 patients.
Anaesthesia interfered with BChE activity, but not with phenotyping. Phenotyping can be performed on blood drawn during or immediately after recovery of mivacurium or suxamethonium to screen for clinically relevant variants of BChE. However, accurate diagnosis of BChE deficiency needs further confirmation by determination of genotype.
Patients with a prolonged paralysis after mivacurium or suxamethonium were selected after ethical committee approval and written consent. BChE activity was based on butyrylthiocholine hydrolysis rate and phenotyping on differential inhibition of BChE activity with dibucaine and fluoride. DNA sequencing allowed genotypic characterization.
We included the results of 20 patients with prolonged neuromuscular block (NMB) induced by mivacurium or suxamethonium. In these patients, BChE activity was different at T1 and T2 (2120 [1506-2733] U L-1 and 4055 [2810-5301] U L-1 , respectively; P = 0.0014; values are mean [95% CI]). When phenotyping was possible, phenotyping at T1 and T2 yielded identical results. Phenotyping failed to identify one new variant (p.Tyr146Cys) and the K variant in 14 of 16 patients.
Anaesthesia interfered with BChE activity, but not with phenotyping. Phenotyping can be performed on blood drawn during or immediately after recovery of mivacurium or suxamethonium to screen for clinically relevant variants of BChE. However, accurate diagnosis of BChE deficiency needs further confirmation by determination of genotype.
摘要：
丁酰胆碱酯酶的变体通常与对suxamethium或mivacurium的长期反应有关。丁酰胆碱酯酶（BChE）可以通过表型和基因型测定来表征。不适当的采血时机可能会干扰表型鉴定方法。然而,关于暴露于麻醉和测试之间的延迟的指南没有明确定义。在这项研究中,比较了早期（T1）和晚期（T2）阶段的BChE活性和表型，并评估了表型/基因型相关性。
在伦理委员会批准和书面同意后，选择米伐库铵或甲胺铵后出现长期瘫痪的患者。BChE活性基于丁酰硫代胆碱水解速率和对二丁卡因和氟化物对BChE活性的差异抑制的表型。DNA测序允许基因型表征。
我们纳入了20例米伐库铵或甲胺铵引起的神经肌肉阻滞（NMB）延长患者的结果。在这些患者中,BChE活性在T1和T2不同（2120[1506-2733]UL-1和4055[2810-5301]UL-1，分别为；P=0.0014；值为平均值[95%CI])。当表型可能时，在T1和T2的表型产生相同的结果。表型分析未能鉴定出一个新的变体（p。16例患者中的14例的Tyr146Cys）和K变体。
麻醉干扰了BChE活动，但不是表型。可以在米伐库铵或甲胺铵回收期间或之后立即抽取的血液进行表型分析，以筛选BChE的临床相关变体。然而,BChE缺乏的准确诊断需要通过基因型的测定进一步证实。
在伦理委员会批准和书面同意后，选择米伐库铵或甲胺铵后出现长期瘫痪的患者。BChE活性基于丁酰硫代胆碱水解速率和对二丁卡因和氟化物对BChE活性的差异抑制的表型。DNA测序允许基因型表征。
我们纳入了20例米伐库铵或甲胺铵引起的神经肌肉阻滞（NMB）延长患者的结果。在这些患者中,BChE活性在T1和T2不同（2120[1506-2733]UL-1和4055[2810-5301]UL-1，分别为；P=0.0014；值为平均值[95%CI])。当表型可能时，在T1和T2的表型产生相同的结果。表型分析未能鉴定出一个新的变体（p。16例患者中的14例的Tyr146Cys）和K变体。
麻醉干扰了BChE活动，但不是表型。可以在米伐库铵或甲胺铵回收期间或之后立即抽取的血液进行表型分析，以筛选BChE的临床相关变体。然而,BChE缺乏的准确诊断需要通过基因型的测定进一步证实。
