先天性中性粒细胞减少症1例报道并文献复习

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1、授予单位代码10089学号或申请号20153053中国图书分类号R725HebeiMedicalUniversity硕士学位论文文文专业学位先天性中性粒细胞减少症111例报道并文献复习1例报道并文献复习研究生：马明晖导师：徐青教授专业：儿科学二级学院：河北医科大学第二医院2018年3月目目目录录录录中文摘要······································································································1英文摘要·····

2、·································································································2英文缩写······································································································3研究论文先天性中性粒细胞减少症1例报道并文献复习前言···································

3、···································································4病例简介····································································································4讨论···························································································

4、···········5结论······································································································7参考文献····································································································7综述先天性中性粒细胞减少症的研究进展··························

5、····················9致谢······································································································22个人简历······································································································231中中中文文文文摘摘摘摘要要要要先天性中性粒细胞减少症1例报道

6、并文献复习摘摘摘要要要要目的：通过对先天性中性粒细胞减少症的临床表现、发病机制、治疗进行探讨，提高对该病的诊疗水平。方法：详细分析1例先天性中性粒细胞减少症患者的病史、临床表现、辅助检查及诊疗经过，并进行相关文献复习。结果：该患儿出生后即反复出现各系统感染伴中性粒细胞明显降低，临床表现符合先天性中性粒细胞减少症。基因检测显示该患儿存在已经报道过的ELANE基因突变：c.640G>A，应用刺激因子治疗后患儿中性粒细胞水平有一定程度提升。结论：先天性中性粒细胞减少症是一种与多基因突变有关的免疫缺陷性疾病，基因检测有助于诊疗水平的提

7、高。粒细胞刺激因子为治疗先天性中性粒细胞减少症的首选药物，根治性治疗依赖于造血干细胞移植。关键词：先天性中性粒细胞减少症,免疫缺陷病,基因突变,粒细胞刺激因子,造血干细胞移植2英英英文文文文摘摘摘摘要要要要OneChinesecaseofCongenitalneutropeniaandliteraturereviewABSTRACTObjective:Toinvestigatetheclinicalmanifestation,pathogenesisandtreatmentofCongenitalneutropeniaandi

8、mprovethediagnosisandtreatmentofthedisease.Methods:Analysethehistory,clinicalmanifestation,auxiliaryexamina-tionandtreatmentofonecaseindet