BCHE基因复合杂合突变致先天性丁酰胆碱酯酶缺乏症一例  

Compound heterozygous mutations in the BCHE gene in a child with butyrylcholinesterase deficiency: A case report

作　　者：张慧华 李中跃[1] ZHANG Huihua;LI Zhongyue(Department of Gastroenterology,Children’s Hospital of Chongqing Medical University,Ministry of Education Key Labora-tory of Child Development and Disorders,China International Science and Technology Cooperation base of Child Develop-ment and Critical Disorders,Chongqing Key Laboratory of Pediatrics,Chongqing 400014,China)

机构地区：[1]重庆医科大学附属儿童医院消化科/儿童发育疾病研究教育部重点实验室/儿童发育重大疾病国家国际科技合作基地/儿科学重庆市重点实验室,重庆400014

出　　处：《中国优生与遗传杂志》2022年第6期1012-1014,共3页Chinese Journal of Birth Health & Heredity

摘　　要：丁酰胆碱酯酶是一种丝氨酸水解酶,可催化胆碱酯类的水解,包括肌肉松弛剂琥珀酰胆碱和米伐库铵。丁酰胆碱酯酶缺乏可能导致麻醉后呼吸暂停。先天性丁酰胆碱酯酶缺乏症是由于位于3号染色体(3q26.1)上的BCHE基因突变引起,多位点的复合杂合突变可能致病。Butyrylcholinesterase is a serine hydrolase that catalyzes the hydrolysis of cholinesterases, including the muscle relaxants succinylcholine and mivaronium. Butyrylcholinesterase deficiency may lead to apnea after anesthesia. Congenital butanediocholinesterase deficiency is caused by a mutation in the BCHE gene on chromosome 3(3q26.1), and compound heterozygous mutations may be pathogenic.

关 键 词：先天性丁酰胆碱酯酶缺乏症 胆碱酯酶 BCHE基因 麻醉 

分 类 号：R725.9[医药卫生—儿科]