ELANE突变相关的中性粒细胞减少症诊治进展

Progress in diagnosis and treatment of ELANE mutation-related neutropenia

ELANE突变相关的中性粒细胞减少症有重度先天性中性粒细胞减少症(SCN)和周期性中性粒细胞减少症(CyN)2种表型,是常染色体显性遗传的原发性免疫缺陷病。ELANE基因突变位点多,发病机制尚不清楚,导致的SCN和CyN起病早、感染反复、感染部位多,可恶性转化为MDS或急性白血病,甚至死亡。血常规、骨髓细胞学检查、基因分析有助于该病的诊治;患者需长期血常规监测,定期复查骨髓细胞学检查,基因分析是确诊的金标准。预防感染是长期管理的必要措施,G-CSF是一线治疗药物,使用剂量个体差异大;HSCT可根治该病,但移植指征、预处理方案无统一指南。此外,基因编辑是未来根治此病的方向。

ELANE mutation-associated neutropenia,which has two phenotypes,SCN and CyN,is autosomal dominant primary immunodeficiency disease.ELANE gene has many mutation sites.Besides,the pathogenesis is unclear,resulting in early onset,repeated infection and multiple infection sites of SCN and CyN,which can be malignant transformed into MDS or acute leukemia,or even death.Blood routine,bone marrow cytological examination,and genetic analysis are helpful for the diagnosis.Long-term blood routine monitoring,regular bone marrow cytological examination,and genetic analysis is the gold standard for diagnosis.Infection prevention is a necessary measure for long-term management.G-CSF is a first-line treatment drug,and the dosage used varies greatly among individuals;HSCT can cure the disease,but there are no guidelines for indications for transplantation and pretreatment regimens.In addition,gene editing is the direction of radical cure of this disease in the future.