周期性中性粒细胞减少症的诊治进展

摘要

周期性中性粒细胞减少症(cyclic neutropenia,CN)是以周期发作性的中性粒细胞减少伴反复感染为特征的遗传病,可散发或家族性发病.CN于1910年被首次报道,直到1999年才有研究者进一步发现其病因,因其发病率较低,在我国罕有报道.CN是由于嗜中性粒细胞弹性蛋白酶(ELA2或ELANE)基因突变所致,是一种罕见的常染色体显性遗传病.CN的诊断主要依据其病史和血液学特征性的周期变化.随着诊疗技术的不断发展,基因检测对于CN的确诊有一定意义.关于治疗,主要是预防感染、对症治疗和应用粒细胞集落刺激因子等.CN虽是一种血液系统疾病,但多数预后良好,并不会发生恶性血液系统疾病如白血病等.目前,临床医生对CN认识仍不足,常会漏诊,并且其发病时无明显特异性,亦常被误诊.为加强对该病的认识,提高诊治水平,明确诊疗方案,该文对CN的发病机制、临床表现、实验室检查特点、诊断及治疗进行了系统总结.%Cyclic neutropenia (CN) is a kind of hereditary disease with periodic onset of neutrophil reduction and recurrent infection,which can be sporadic or familial.CN was firstly reported in 1910,and it was not until 1999 that the cause of the CN was further identified by investigators.Because the incidence of CN is low,the disease is rarely reported in China.CN is caused by mutations in the gene for neutrophil elastase (ELA-2 or ELANE),and it is a rare,inherited autosomal dominant disorder.Diagnosis of CN is based on the medical history and blood cycle characteristics.With the continuous development of medical technology,gene testing has certain significance for the diagnosis of CN.For the treatment,the most important is infection prevention,symptomatic treatment,the use of granulocyte colony-stimulating factor,and so forth.Although CN is a hematological disease,most cases have good prognosis,and will not result in malignant hematological diseases such as leukemia.At present,the doctors' awareness of CN has been lacking,which leads to misdiagnosis.The symptom and sign are not specific at the onset of CN,thus there is often misdiagnosis.In order to deepen the understanding of this disease and improve the skills of diagnosis and treatment,this review summarizes the pathogenesis,clinical manifestation,clinical characteristics,diagnosis and treatment of CN.