X连锁淋巴细胞异常增生症1型继发噬血细胞性淋巴组织细胞增生症合并回肠穿孔一例并文献复习  

X-linked lymphoproliferative syndrome type 1 complicated with secondary hemophagocytic lymphohistiocytosis and ileal perforation： case report and literature review

作　　者：肖莉[1] 管贤敏[1] 孟岩[1] 赵晓东[2] 宪莹[1] 安云飞[2] 于洁[1] 

机构地区：[1]重庆医科大学附属儿童医院血液肿瘤科,400014 [2]重庆医科大学附属儿童医院肾脏免疫科,400014

出　　处：《中华儿科杂志》2016年第4期290-293,共4页Chinese Journal of Pediatrics

基　　金：重庆医科大学附属儿童医院科研项目（hjyn2012-2）

摘　　要：目的总结分析x连锁淋巴细胞异常增生症1型（XLP-1）患儿的临床特点、实验室检查以及治疗情况。方法回顾性分析重庆医科大学附属儿童医院2012年确诊的1例1岁3个月XLP-1男性患儿的临床表现、实验窀检杏、基因及蛋白表达、并发症及预后资料，并进行文献复习。结果患儿以持续高热为主要表现，伴黄疸、腹胀、肝脾淋巴结肿大、皮疹及可疑阳性家族史；由EB病毒感染诱发噬血绌胞性淋巴组织细胞增生症（HLH），最终死于回肠穿孔、肠道感染及出血。其SH2D!A基因外显子1编码区有夫片段碱基缺失兼插入突变，引起错义突变（P．Leu25Lys）及无义突变（在错义突变后插入终止密码子TAG，使编码蛋白质的氨基酸提前在25位终止），导致淋巴信号活化分子相关蛋白表达缺失，患儿母亲淋巴信号活化分子相关蛋白表达部分缺失。在Pubmed数据库检索2010年1月1日至2014年1月1日文献，检索词为“X—linked lymphoproliferative syndrome”，检索157例XLP-1患儿中有阳性家族史60．6％（40／66）；淋巴瘤49．7％（72／145）；低丙种球蛋白24．8％（39／157）：继发HLH43．3％（68／157）；出血性肠炎或胃炎2．6％（3／116）。结论XLP-1型合并EB病毒HLH发生坏死性肠炎、同肠穿孔少见；XLP-1患儿基因型表现为SH2D1A基因大片段缺失需警惕严重胃肠道表现。Objective To analyze and summarize the clinical characteristics, laboratory tests and treatment of X-linked lymphoproliferati,：e syndrome lype 1 （ XLP-1 ）. Method A retrospective study was done in 2012 on an XLP-I patient to collect the data on clinical manifestation, laboratory examination, gene and protein expression, complications and prognosis. Literatures were reviewed in Pubmed with the key word ＂ X-linked lymphoproliferative syndrome＂. Result The patient with persistent high fever, jaundice, abdominal distension, hepatosplenomegaly and lymphadenectasis, rash and suspicious positive family history; the patient eventually died of hemophagocytic lymphohistiocytosis （HLH）, with intestinal perforation, intestinal infection and bleeding after being infected with EB virus. This patient with SH2D1A gene exon 1 large fragment of the coding region of the nucleotide deletion and insertion mutations causing missense mutations （p. Lcn25Lys） and nonsense mutations （stop codon TAG was inserted after missense mutation so that the protein encoded by the early termination of the 25 amino acids ）, which led to SAP protein missing. The expression of SAP in his mother was also partly missing. Retrieval of reports on XLP-1 was conducted through literature search （included totally 157 cases） at home and abroad, positive family history accounted for 60. 6% （ 40/66 ） ; lymphoma incidence accounted for 49.7% （ 72/145 ） ; low gamma globulin occurred in 24. 8% （39/157） of cases; secondary HLH ratio accounted for 43.3% （68/157） ; XLP-1 in patients with hemorrhagic enteritis and gastritis was low, accounted for only 2. 6% （3/116 ）. Conclusion XLP-1 patients occasionally develop necrotic enteritis complicated with ileal perforation. XLP-1 with large fragment deletion of SH2D1A gene might be associated with serious gastrointestinal manifestations.

关 键 词：淋巴组织细胞增多症 嗜血细胞性 疱疹病毒4型 人 肠穿孔 

分 类 号：R725.5[医药卫生—儿科]