SH2D1A基因p.Pro101Leu突变的XLP-1继发噬血细胞综合征伴中枢神经系统受累1例并文献复习
XLP-1 with p.Pro101Leu mutation in SH2D1A gene secondary to hemophagocytic syndrome with central nervous system involvement:A case report and literature review
王缦 1黄宗宣 2陶艳玲3
作者信息
- 1. 济宁医学院附属医院(山东济宁,272007)
- 2. 山东省医药卫生儿科内科学重点学科
- 3. 济宁市儿童重症感染防治重点实验室
- 折叠
摘要
为提高对X-连锁淋巴细胞增殖性疾病1型(X-linked lymphoproliferative disease 1,XLP-1)的认识,扩充我国XLP-1的病例数据,现回顾诊治的1例XLP-1患者的临床资料,并查阅相关文献,从而总结该病的临床特征、诊断及治疗等.本例患者有阳性家族史,故在首次感染即完善基因筛查,发现SH2D1A c.302C＞T(p.P101 L)半合子突变,来自母亲.该患者早期仅表现为抗生素可控制的感染,直到确诊后10个月出现EBV相关噬血细胞综合征(hemophagocytic lymphohistiocytosis,HLH),按HLH-1994方案化疗,病情缓解,但因持续EB病毒血症,并出现中枢神经系统受累,予挽救化疗后行造血干细胞移植,现患儿健康存活.故对于有阳性家族史者,以及诊断为HLH或淋巴瘤、低丙种球蛋白的男性患儿应行SH2D1A基因突变的筛查,一旦确诊为XLP-1,应尽早行造血干细胞移植.
Abstract
To raise awareness of X-linked lymphoproliferative disease 1(XLP-1),and expand case data of XLP-1 in China,it reviews the clinical data of one XLP-1 patient in our hospital,and reviews relevant literature to summarize the clinical characteristics,diagnosis,and treatment of this disease.This patient has a positive family history,therefore,the genetic test was conducted during the first infection,a hemizygous mutation was found in SH2D1A c.302C＞T(p.P101 L),from his mother.In the early stages,the patients only show antibiotic con-trolled infections,until 10 months after diagnosised,he showed EBV related hemophagocytic lymphohistiocytosis(HLH).Chemotherapy according to the HLH-1994 protocol resulted in remission of the condition,but due to persistent EB viremia and central nervous system involvement,hematopoietic stem cell transplantation was per-formed after salvage chemotherapy,now the child is healthy and surviving.So those boys who with a positive family history or diagnosed HLH or lymphoma or low gamma globulin should be screened for SH2D1A gene mu-tation.Once XLP-1 is diagnosed,hematopoietic stem cell transplantation should be performed as soon as possible.
关键词
XLP/SH2D1A基因突变/噬血细胞综合征/EB病毒/造血干细胞移植Key words
XLP/SH2D1A gene mutation/hemophagocytic lymphohistiocytosis/Epstein-Barr virus/hema-topoietic stem cell transplantation引用本文复制引用
出版年
2024
NETL
NSTL
万方数据