重型先天性中性粒细胞减少症1例报告并文献复习

临床儿科杂志 ›› 2014, Vol. 32 ›› Issue (5): 485-488.

重型先天性中性粒细胞减少症1例报告并文献复习

杨湖，高宗燕，李琳迪，蓝丹

广西医科大学第一附属医院儿科（广西南宁　530021）

收稿日期:2014-01-24 出版日期:2014-05-15 发布日期:2014-05-15

Report of a case withsevere congenital neutropeniaand literature review

YANG Hu, GAO Zongyan, LI Lindi, LAN Dan

(Pediatric department of the First Affiliated Hospital of Guangxi Medical University, Nanning 530021, China)

Received:2014-01-24 Online:2014-05-15 Published:2014-05-15

摘要/Abstract

摘要：

　目的　探讨先天性中性粒细胞减少症(SCN)的临床特征及发病机制。方法　采用聚合酶链反应和直接测序技术依次分析1例临床诊断为SCN患儿的ELANE、HAX1、WAS、GFI1、CSF3R及CXCR4基因突变情况，并收集其临床及实验室检查资料。结果　患儿上述常见致病基因均未见突变，中性粒细胞功能正常，粒细胞集落刺激因子（G-CSF）治疗后可明显提升患儿中性粒细胞水平。结论　SCN是一种与多基因突变有关的遗传异质性综合征，基因检测有助于诊断和治疗，但仍无已知突变基因的患儿占相当比例。

Abstract: 　Objective　To investigatethe clinical features and pathogenesis of severe congenital neutropenia (SCN) by detectingthe gene mutation of a SCN patientsuspected by clinical diagnosis. Methods　The intravenous anticoagulant and clinical data and laboratory results of this child were collected; the phagocyte and oxidation function of neutrophils were evaluated by flow cytometer; ELANE, HAX1, WAS, GFI1, CSF3R and CXCR4geneswere screened by PCR amplification and sequencing. Results　The neutrophil function of this patient was normal; sequencing results revealed no mutationoccurred in ELANE, HAX1, WAS, GFI1, CSF3R and CXCR4; and granulocyte colony-stimulating factor (G-CSF) can obviously enhance the level of neutrophils. Conclusion　SCN is a kind of genetic heterogeneity syndrome associated with multiple gene mutations, gene diagnosis will contribute tounderstand the pathogenesisof the disease and provide theoretical basis for treatment, although more and more pathogenic genes were　found to be connected with SCN, the cases of unknown mutationstill account for a large proportion.

杨湖，高宗燕，李琳迪，蓝丹. 重型先天性中性粒细胞减少症1例报告并文献复习[J]. 临床儿科杂志, 2014, 32(5): 485-488.

YANG Hu,GAO Zongyan,LI Lindi,LAN Dan. Report of a case withsevere congenital neutropeniaand literature review[J]. , 2014, 32(5): 485-488.

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