临床荟萃
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摘要： 目的加强对家族性噬血细胞性淋巴组织细胞增生症（familially hemophagocytic lymphohistiocytosis，FHL）的认识。方法报道确诊为FHL的新病例1例，结合国内外报道的FHL的病例，对该病的临床特点进行汇总分析。结果FHL2常与PRF1基因突变相关，约20%~40%的患者存在穿孔素基因突变。结论对于有阳性家族史，基因诊断明确，应尽早行化疗或者造血干细胞移植。若无家族史，未发现与继发性HLH相关的原发病因，可考虑行基因筛查以明确是否存在FHL的可能。
关键词: 噬血细性淋巴组织增生症；诊断, 鉴别；穿孔素基因
Abstract: ObjectiveTo improve the diagnosis and treatment of familially hemophagocytic lymphohistiocytosis (FHL). MethodsOne patient with FHL confirmed by diagnosis was presented and relevant FHL cases reported in China and abroad were combined to gather and analyze the clinical characteristics. ResultsFHL2 was often associated with PRF1 gene mutations， about 20%40% of the patients was in perforin gene mutations. ConclusionFor patients with positive family history and clear genetic diagnosis， chemotherapy or hematopoietic stem cell transplantation is needed as soon as possible. Without a family history， the primary cause of associated with secondary HLH was unknown， genetic screening can be considered in order to make clear the possibility of FHL.
Key words: lymphohistiocytosis, hemophagocytic, diagnosis, differential, treatment outcome, perforin
张亚男1，刘春霞2，姚小健2，赵丽2. 家族性噬血细胞性淋巴组织细胞增生症1例并文献复习[J]. 临床荟萃, doi: 10.3969/j.issn.1004-583X.2016.09.019.
Zhang Yanan1，Liu Chunxia2，Yao Xiaojian2，Zhao Li2. A case report of familially hemophagocytic lymphohistiocytosis and literature review[J]. Clinical Focus, doi: 10.3969/j.issn.1004-583X.2016.09.019.
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链接本文: https://huicui.hebmu.edu.cn/CN/10.3969/j.issn.1004-583X.2016.09.019
https://huicui.hebmu.edu.cn/CN/Y2016/V31/I9/998
