Report of a case of severe congenital neutropenia with literature review

VernacularTitle:重型先天性中性粒细胞减少症1例报告并文献复习
Author: Hu YANG ; Zongyan GAO ; Lindi LI ; Dan LAN
Publication Type:Journal Article
Keywords: severe congenital neutropenia; respiratory burst; gene mutation; sequence analysis
From: Journal of Clinical Pediatrics 2014;(5):485-488
CountryChina
Language:Chinese
Abstract: 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.