CAJ | 학술논문

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。
목적：탐토선천성중성립세포감소증(SCN)적림상특정급발병궤제。방법채용취합매련반응화직접측서기술의차분석1례림상진단위SCN환인적ELANE、HAX1、WAS、GFI1、CSF3R급CXCR4기인돌변정황，병수집기림상급실험실검사자료。결과환인상술상견치병기인균미견돌변，중성립세포공능정상，립세포집락자격인자（G-CSF）치료후가명현제승환인중성립세포수평。결론 SCN시일충여다기인돌변유관적유전이질성종합정，기인검측유조우진단화치료，단잉무이지돌변기인적환인점상당비례。
Objective To investigate the clinical features and pathogenesis of severe congenital neutropenia (SCN) by detecting the gene mutation of a SCN patient suspected by clinical diagnosis. Methods The intravenous anticoagulant and clin-ical data and laboratory results of this child were collected;the phagocyte and oxidation function of neutrophils were evaluated by flow cytometry;ELANE, HAX1, WAS, GFI1, CSF3R and CXCR4 genes were screened by PCR amplification and sequencing. Results The neutrophil function of this patient was normal; sequencing results revealed no mutation occurred 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 diag-nosis will contribute to understanding of the pathogenesis of the disease and provide theoretical basis for treatment. Though more and more pathogenic genes were found to be connected with SCN, the cases of unknown mutation still account for a large proportion of this disease.