家族性噬血细胞综合征2例并文献复习

Familial hemophagocytic syndrome: report of two cases and review of literature

目的:探讨家族性噬血细胞综合征(HPS)的病因机制与诊断。方法:回顾性收集、分析2例我院收治的HPS的临床资料。结果:例1患儿与其父母均有UNCD13基因突变;例2患儿为巴基斯坦人,其父母近亲结婚,患儿与其父母、兄长均有UNCD13、STX11基因突变。例1患儿予以诱导治疗后因经济原因未进一步治疗,目前病情尚平稳;例2患儿予以化疗后骨髓移植,目前无病生存。结论:儿童HPS应及时行HPS相关基因检测明确诊断并积极治疗,有基因异常的未发病者应追踪随访。

Objective:To investigate the pathogenesis and diagnosis of familial hemophagocytic syndrome(HPS).Methods:Clinical data of 2 cases of HPS were collected and analyzed retrospectively.Results:In case 1,UNCD13 gene mutation had been detected in both the patient and his parents.In case 2,the family came from Pakistani,and the parents were consanguineous marriage.The UNCD13 gene and STX11 gene mutation had been detected in this family.After the induction thera-py,no further treatment was performed in case 1,whose condition was stable.Bone marrow trans-plantation was performed after chemotherapy for case 2,who survived without disease in recent follow-up.Conclusion:In hemophagocytic syndrome children,related gene tests and therapy should be ad-opted early,and those with abnormal gene should be followed up all the time.