新生儿家族性噬血细胞综合征UNC13D基因位点突变1例并文献复习  

Neonatal Familial Hemophagocytic Lymphohistiocytosis Associated with UNC13D Gene Locus Mutation:A Case Report and Literature Review

作　　者：欧阳颖[1] 董红[1] 唐淑敏 周瑞瑜 张羚枚 阮扬皓 OUYANG Ying;DONG Hong;TANG Shu-min;ZHOU Rui-yu;RUAN Yang-hao;ZHANG Ling-mei(Department of Neonatology,Sun Yat-sen Memorial Hospital,Sun Yat-sen University,Guangzhou,510120)

机构地区：[1]中山大学孙逸仙纪念医院新生儿科,510120

出　　处：《岭南急诊医学杂志》2020年第6期609-613,共5页Lingnan Journal of Emergency Medicine

基　　金：广东省广州市民生科技攻关计划项目基金(201903010079)。

摘　　要：目的:报道1例新生儿家族性噬血细胞综合征(Familial hemophagocytic lymphohistiocytosis,FHL)的临床及遗传学特点,并进行文献复习,探讨该病在新生儿期的早期诊断及治疗.方法:对2014年6月我院新生儿科的1例FHL-3患儿的诊疗过程及基因检测结果等资料进行总结.以"新生儿家族性噬血细胞综合征"、"Familial hemophagocytic lymphohistiocytosis"、"newborn"、"nonimmune hydrops fetalis"为关键词查询万方、Pubmed数据库,并对生后一周内起病的病例进行总结.结果:本文共纳入17篇文献,与本例合并共25例病例资料.其中22例以水肿、胸腹水、肝脾大、肝功能异常等典型FHL表现为主,另有3例在胎儿期出现水肿死产.有17例经基因确诊的患儿,PRF1、UNC13D、STX11、STXBP2基因突变分别占44%、16%、4%和4%.本例患儿基因检测结果为UNC13D基因突变,c.1055+1G>A来源于父亲,c.2448-13G>A来源于母亲.结论:新生儿期发病的FHL容易被误诊,因此需早期识别及确诊该疾病,并尽早行骨髓造血干细胞移植,利于改善患儿的预后.Objective:To report the clinical and genetic features of a newborn with familial hemophagocyticlymphohistiocytosis(FHL)type 3 in our hospital,to review the related literature and to investigate the early diagnosisand treatments of neonatal FHL. Methods:The clinical and genetic data of a newborn with familial hemophagocyticlymphohistiocytosis,who had visited the department of Neonatology of our hospital in June 2014 was analyzed. Inaddition,“Familial hemophagocytic lymphohistiocytosis”,“newborn”,“nonimmune hydrops fetalis”in Chinese andEnglish were used as key words to search at Wan Fang and PubMed database,and cases of the onset within one weekafter birth with early diagnosis domestic and overseas were summarized and analyzed. Results:A total of 25 cases wereanalyzed. Onset of 22 patients were characterized by edema,pleural effusion and ascites,hepatosplenomegaly,abnormal liver function and other typical FHL manifestations. Other 3 cases were stillbirth due to fetal edema. 17 patientswere diagnosed by gene,among which the mutations of PRF1,UNC13D,STX11 and STXBP2 accounted for 44%,16%,4% and 4% respectively. In our report,UNC13D mutation detected by genetic testing. The gene mutation c.1055+ 1G>A originated from father and c. 2448 ⁃ 13G>A from mother. Conclusion:FHL in neonatal period is prone tomisdiagnosis. Early identification and diagnosis of the disease and early bone marrow hematopoietic stem celltransplantation will help improve the prognosis of children.

关 键 词：家族性噬血细胞综合征 新生儿 基因突变 UNC13D 

分 类 号：R722.1[医药卫生—儿科]