儿童慢性活动性EB病毒感染合并UNC13D基因突变3例临床分析

Clinical analysis of three chronic active Epstein-Barr virus infection children with UNC13D gene mutation

目的探讨儿童慢性活动性EB病毒感染(CAEBV)合并UNC13D基因突变的临床特点,为临床诊治提供思路。方法对北京儿童医院血液肿瘤中心收治的3例CAEBV患儿进行基因突变筛查,对临床病例资料进行回顾性总结分析。结果3例患儿均存在UNC13D杂合子突变,但突变位点不同。例1和例2给予抗病毒治疗后好转出院,院外分别随访38个月和26个月,期间均出现EB病毒活动表现。例3行异基因造血干细胞移植术,随访34个月,仍无病生存。结论儿童CAEBV可能存在UNC13D基因突变,该突变可能为CAEBV发病机制以及预后差的重要原因之一。小年龄起病的发热、肝脾淋巴结肿大患儿,若EBV-DNA持续高滴度,建议尽早进行UNC13D基因突变的筛查。CAEBV患儿单纯抗病毒治疗效果差,异基因造血干细胞移植是根治性治疗手段。

Objective To discuss the clinical characteristics of children with chronic Epstein-Barr virus infection （CAEBV） combined with UNC13D gene mutation. Methods active Gene mutation of UNC13D was tested in three CAEBV patients in Hematology Center of Beijing Children＇ s Hospital. Clinical data were collected and analyzed Results Three patients all had UNC13D heterozygote mutation. But the mutation sites were different from each other. After antiviral therapy, two cases got improved. EBV were reactivated at 26 and 38 months follow-ups. One case was undergone allogeneic hematopoietic stem cell transplantation and survives free of disease for 34 months at present. Conclusions UNC13D gene mutation could occur in children with CAEBV. It might be one of the main reasons for pathogenesis and poor prognosis of CAEBV. For young children who had fever, hepatosplenomegaly and lymphadenopathy, if their EBV-DNA copies kept high titer, UNC13D gene mutation screening as soon as possible was suggested. Antiviral therapy had poor effect. Allogeneic hematopoietic stem cell transplantation was the only effective treatment for now.