先天性中性粒细胞减少症的诊治

Diagnosis and Treatment Procedures of Congenital Neutropenia

本研究探索先天性中性粒细胞减少症(CN)的合理化诊治流程及策略。以1例CN患者为研究对象,收集其临床资料、实验室检查结果,并按序检测ELA2、GFI1、HAX1及WASp致病基因突变情况,而后检测其中性粒细胞的粒细胞集落刺激因子受体(G-CSFR)的表达水平,并评价G-CSFR的突变发生情况。依上述步骤对患者进行临床及病因学诊断并实施随访。结果表明,参照诊断标准该患者诊断为无遗传背景的非综合征性CN;ELA2、GFI1、HAX1及WASp基因测序分析均无突变发生;患者中性粒细胞表面G-CSFR表达正常,G-CSFR胞内段无获得性截短性突变。结论:本研究以1例CN患者为研究对象,探索了CN的合理化诊治策略及流程,并证实该患者为无已知致病突变基因存在的散发的非综合征性CN病例。

To explore the reasonable procedures and strategies of diagnosis and treatment of congenital neutropenia（CN）,clinical data and laboratory examination results of a boy suspected of CN were collected;gene ELA2,GFI1,HAX1,and WASp of whom were sequenced,granulocyte colony-stimulating factor receptor（G-CSFR） expression on neutrophil was analyzed,and cytoplasmic domain of G-CSFR was sequenced.The results showed that the diagnosis of non-syndromic variants of CN（NSVCN） was made on this patient according to the criteria;sequencing results revealed no mutation occurred in ELA2,GFI1,HAX1 and WASp;a normal expression level of G-CSFR on neutorphil from this patient was detected and no truncated mutation was found in the intracellular domain of G-CSFR.It is concluded that reasonable procedure of diagnosis and treatment of CN is established,and a sporadic NSVCN with no recognized pathogenic mutation is confirmed in this patient.