遗传整合型人疱疹病毒6A型携带者个体的鉴别诊断  

Differential diagnosis of individuals carrying inherited human herpesvirus 6A

作　　者：马秀娟 王芳 甄成亮 张乾 王静宇 韩璐优 方芳 刘红星 MA Xiujuan;WANG Fang;ZHEN Chengliang;ZHANG Qian;WANG Jingyu;HAN Luyou;FANG Fang;LIU Hongxing(Department of Pathology&Laboratorial Medicine,Hebei Yanda LU Dao-Pei Hospital,Langfang,Hebei 065201,China;不详)

机构地区：[1]河北燕达陆道培医院病理和检验医学科,河北廊坊065201 [2]河北燕达陆道培医院造血干细胞移植科,河北廊坊065201 [3]北京陆道培医院病理和检验医学科北京陆道培血液病研究院,北京100176

出　　处：《中国病毒病杂志》2024年第5期482-487,共6页Chinese Journal of Viral Diseases

摘　　要：目的探讨遗传整合型人疱疹病毒6A型携带者个体(individuals carrying inherited human herpesvirus-6A,iciHHV-6A)的鉴别诊断要点。方法回顾性分析3例iciHHV-6A病毒载量检测、血培养感染病原菌分析和宏基因组二代测序(metagenomic next-generation sequencing,mNGS)结果,结合患者的临床表现、影像学证据、诊治经过及转归,对3例iciHHV-6A携带者的临床特点进行分析。结果3例患者于异基因造血干细胞移植(allogeneic hematopoietic stem cell transplantation,allo-HSCT)前后病毒载量检测血浆/外周血人疱疹病毒6型(human herpesvirus-6,HHV-6)持续阳性。1例患者经血培养及mNGS检测到单核细胞增生李斯特菌和HHV-6A,结合临床表现及颅脑磁共振成像,诊断为单核细胞增生李斯特菌菌血症/脑膜炎;另2例分别在脑脊液和外周血mNGS检测中发现HHV-6A核酸序列,但缺乏典型病毒感染的临床表现。3例患者的病毒分型均为HHV-6A型,且血浆/外周血HHV-6 DNA定量检测显示高拷贝状态,不受抗病毒治疗影响,与患者的临床表现和治疗转归无关。经mNGS检测家族成员指甲标本,确认3例患者均为iciHHV-6A,其中1例为父系遗传,2例为母系遗传。结论iciHHV-6A会出现HHV-6持续强阳性,mNGS分析可帮助鉴别HHV-6A和HHV-6B分型以及鉴定是否为iciHHV-6A。Objective To explore the key points for differential diagnosis of individuals carrying inherited human herpesvirus-6A(iciHHV-6A).Methods A retrospective analysis was performed on three cases of iciHHV-6A,focusing on virus load detection,blood culture,and metagenomic next-generation sequencing(mNGS) results.In conjunction with clinical manifestations and imaging evidence,the clinical features of the three iciHHV-6A carriers were assessed,based on the diagnostic criteria for viral encephalitis.Results Three patients had persistently positive virus load detection results for HHV-6 in plasma/peripheral blood before and after undergoing allogeneic hematopoietic stem cell transplantation(allo-HSCT).One case was diagnosed with Listeria monocytogenes bacteremia/meningitis by blood culture and metagenomic next-generation sequencing(mNGS),and was confirmed by clinical symptoms and MRI results.HHV-6A nucleic acid was detected in cerebrospinal fluid and peripheral blood of 2 other cases by mNGS,but no typical clinical signs was found.All three patients had high HHV-6A DNA levels in blood,which was unaffected by treatment and was not linked to clinical presentation or prognosis.mNGS results of nail samples from family members confirmed that the three patients were inherited chromosomally integrated HHV-6A(iciHHV-6A),with one case of paternal inheritance and two of maternal inheritance.Conclusions iciHHV-6A consistently show strong positive signals for HHV-6.mNGS is effective in differentiating between HHV-6A and HHV-6B types and in identifying iciHHV-6A.

关 键 词：宏基因组二代测序技术 人疱疹病毒6A 人疱疹病毒6B 遗传性整合型人疱疹病毒6A 

分 类 号：R752[医药卫生—皮肤病学与性病学]