重型先天性中性粒细胞减少症1例报告并文献复习

Abstract

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.

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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Report of a case withsevere congenital neutropeniaand literature review

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