以UNC13D基因突变所致的家族性噬血细胞综合征伴EB病毒感染一例

A case of familial hemophagocytic lymphohistiocytosis with Epstein-Barr virus infection caused by UNC13D gene mutation

噬血细胞综合征(HLH)是一类过度炎症反应综合征,临床表现错综复杂,病情进展快且致死率较高,误诊漏诊率较高,故临床诊断、治疗十分重要。本文报道1例以UNC13D基因突变所致的家族性噬血细胞综合征伴EB病毒感染患者的发病情况、诊疗经过,并复习相关文献,为临床诊断、治疗提供参考。

Hemophagocytic lymphohistiocytosis(HLH)is a kind of hyperinflammatory response syndrome with complex clinical manifestations,rapid progression,high mortality,and high misdiagnosis and missed diagnosis rate.Therefore,clinical diagnosis and treatment of the disease are very important.This paper reports the incidence and diagnosis of a case of familial HLH with EB virus infection caused by UNC13D gene mutation,and reviews relevant literature to provide reference for clinical diagnosis and treatment.