Rare Cases of Hepatitis B Virus Infection Combined with Severe Cholinesterase Deficiency not Caused by Liver Dysfunction: Two Case Reports and Literature Review
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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。 Abstract: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. -
图 2 人类BCHE基因图谱及常见的物种突变情况[5]
Figure 2. Human BCHE gene map and common species mutations
表 1 病例2全外显子测序检出的BCHE基因突变情况
Table 1. BCHE gene mutations detected by whole exon sequencing in case 2
基因(参考序列) 变异 染色体位置 变异频率 BCHE(NM_000055.2) c.1699G>A(p.A567T)纯合变异 Chr3: 165491280 0.1137 BCHE(NM_000055.2) c.1177G>C(p.G393R)杂合变异 Chr3: 165547645 0.0017 -
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