Min Kyoung Il, Byeon Seonggyu
College of Medicine, Catholic Hematology Hospital, Seoul St. Mary's Hospital, The Catholic University of Korea, 222 Banpo-daero, Seocho-Gu, Seoul, 06591, Republic of Korea.
Blood Res. 2025 May 26;60(1):30. doi: 10.1007/s44313-025-00079-1.
Neutropenia is a hematologic condition characterized by an absolute neutrophil count < 1500/μL, associated with increased infection risk. This review aimed to provide an updated overview of the classification, pathophysiology, etiology, diagnosis, and management of neutropenia in congenital and acquired forms.
We conducted a comprehensive literature review of various causes of neutropenia, including genetic syndromes, autoimmune disorders, infections, and drug-induced mechanisms. Emphasis was placed on clinical manifestations, underlying mechanisms, diagnostic algorithms, and therapeutic approaches, including recent advances in molecular diagnostics and biologic therapies.
Neutropenia can result from decreased neutrophil production, immune-mediated destruction, or abnormal distribution. Congenital neutropenia is often linked to mutations in genes such as ELANE, HAX1, and SBDS. Acquired neutropenia can be caused by chemotherapy, infections, autoimmune diseases, or nutritional deficiencies. Diagnostic evaluation requires a stepwise approach incorporating clinical history, blood counts, peripheral smear, bone marrow biopsy, and molecular or serologic testing. Treatment depends on the etiology and severity and includes granulocyte colony-stimulating factor, immunosuppressants, antimicrobial prophylaxis, and hematopoietic stem cell transplantation in selected cases.
Neutropenia is a multifactorial disorder requiring individualized evaluation and management. Advances in genetic and immunological diagnostics combined with targeted therapies have improved risk stratification and outcomes. Early recognition and a multidisciplinary approach are essential to reduce infection-related morbidity and prevent progression to hematologic malignancies in high-risk patients.
中性粒细胞减少症是一种血液学疾病，其特征为绝对中性粒细胞计数<1500/μL，且感染风险增加。本综述旨在提供先天性和获得性中性粒细胞减少症在分类、病理生理学、病因、诊断及管理方面的最新概述。
我们对中性粒细胞减少症的各种病因进行了全面的文献综述，包括遗传综合征、自身免疫性疾病、感染及药物诱导机制。重点关注临床表现、潜在机制、诊断算法及治疗方法，包括分子诊断和生物治疗的最新进展。
中性粒细胞减少症可由中性粒细胞生成减少、免疫介导的破坏或异常分布导致。先天性中性粒细胞减少症常与ELANE、HAX1和SBDS等基因突变有关。获得性中性粒细胞减少症可由化疗、感染、自身免疫性疾病或营养缺乏引起。诊断评估需要采取逐步方法，包括临床病史、血细胞计数、外周血涂片、骨髓活检以及分子或血清学检测。治疗取决于病因和严重程度，包括粒细胞集落刺激因子、免疫抑制剂、抗菌预防，以及在特定病例中进行造血干细胞移植。
中性粒细胞减少症是一种多因素疾病，需要个体化评估和管理。遗传和免疫诊断的进展以及靶向治疗改善了风险分层和治疗结果。早期识别和多学科方法对于降低高危患者感染相关发病率以及预防进展为血液系统恶性肿瘤至关重要。
