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

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。

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 controlled 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 performed 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 mutation.Once XLP-1 is diagnosed,hematopoietic stem cell transplantation should be performed as soon as possible.