摘要
目的分析乙肝病毒感染合并非肝脏合成功能障碍所致的胆碱酯酶(CHE)极度降低的罕见病例,探讨其临床意义。方法收集2021年7月和2022年2月在昆明市第三人民医院住院的2例罕见病例的临床资料,包括肝功能、凝血功能、乙肝标记物、乙肝病毒量、全外显子测序等进行分析,并作文献复习。结果2例乙肝病毒感染患者均长期CHE极度降低,肝脏合成功能良好,全外显子测序均显示存在血清胆碱酯酶(BCHE)基因突变。结论案例CHE极度低下并非是肝脏合成功能障碍所致。全外显子测序检出了2例患者的BCHE基因突变,非肝脏合成功能障碍所致的胆碱酯酶极度降低患者,进行BCHE基因突变筛查可能是必要的。
Objective To analyze the hepatitis B virus infection with extreme reduction of cholinesterase(CHE)not caused by liver synthesis dysfunction,and to explore its clinical significance.Methods The clinical data of 2 rare cases hospitalized in the 3rd people’s hospital of Kunming in July 2021 and February 2022,including liver function,coagulation function,hepatitis B markers,hepatitis B virus volume,and whole exon sequencing,were collected and analyzed,and literature was reviewed.Results CHE was extremely reduced in 2 patients with HBV infection,liver synthesis function was good,and whole exon sequencing showed the presence of butyrylcholinesterase(BCHE)gene mutation.Conclusion The extremely low CHE in this case is not due to liver function disorder.Exon sequencing detected mutations in the BCHE gene in two patients.Screening for BCHE mutations may be necessary in patients with extremely low cholinesterase levels not due to liver dysfunction.
作者
柏保利
匡小林
胡明芬
常国楫
张露
李生浩
王晴晴
BAI Baoli;KUANG Xiaolin;HU Mingfen;CHANG Guoji;ZHANG Lu;LI Shenghao;WANG Qingqing(Dept.of Hepatology,Yunnan Clinical Center for Infectious Diseases/The 3rd People's Hospital of Kunming,Kunming Yunnan 650031;School of Public Health,Dali University,Dali Yunnan 671000,China)
出处
《昆明医科大学学报》
CAS
2023年第12期59-64,共6页
Journal of Kunming Medical University
基金
国家自然科学基金资助项目(82260408)
云南省科技厅基础研究专项面上基金资助项目(202101AT070054)
昆明市社会发展与科技惠民计划基金资助项目(2023-1-NS-002)
昆明市卫健委卫生科研课题基金资助项目(2022-03-08-005,2022-03-08-011)。
关键词
胆碱酯酶
丁酰胆碱酯酶缺乏症
假性胆碱酯酶
遗传代谢肝病
Cholinesterase
Butyrylcholinesterase deficiency
Pseudocholinesterase
Hereditary metabolic liver disease
