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- W3031772322 abstract "目的对噬血细胞性淋巴组织细胞增生症(haemophagocytic lymphohistiocytosis，HLH)临床特点及相关基因突变进行研究，推测可能的发病原因。方法3月龄患儿，发热皮疹起病，临床表现符合HLH，进行骨髓细胞学检查，并用聚合酶链反应及Sanger直接测序法对患儿进行HLH相关基因突变检测。结果患儿影像学以急性坏死性脑病为特征性表现，骨髓学检查显示大量噬血组织细胞；HLH相关基因测序发现PRF1基因有1个突变位点，UNC13D基因10个突变位点，STXBP2基因存在8个突变，XIAP基因存在2个突变，诊断继发性噬血细胞综合征，按照HLH-2004方案治疗，病情控制良好。结论患儿以坏死性脑病为特征性表现，严重超敏反应可能是导致噬血细胞综合征的病因之一，早诊断早治疗对于超敏反应引起的噬血细胞综合征及脑损伤预后非常重要。" @default.
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- W3031772322 date "2016-09-20" @default.
- W3031772322 modified "2023-09-25" @default.
- W3031772322 title "Clinical analysis of haemophagocytic lymphohistiocytosis induced by hypersensitivity" @default.
- W3031772322 doi "https://doi.org/10.3760/cma.j.issn.1673-4912.2016.09.013" @default.
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