Kim Juhyung, Hwang Soyoon, Hwang Narae, Lee Yeonji, Cho Hee Jeong, Moon Joon Ho, Sohn Sang Kyun, Baek Dong Won
Department of Hematology/Oncology, Kyungpook National University Hospital, School of Medicine, Kyungpook National University, Daegu, Korea.
Department of Infectious Diseases, Kyungpook National University Chilgok Hospital, School of Medicine, Kyungpook National University, Daegu, Korea.
J Yeungnam Med Sci. 2023 Jul;40(3):283-288. doi: 10.12701/jyms.2022.00353. Epub 2022 Jul 28.
Severe chronic neutropenia is classified as severe congenital, cyclic, autoimmune, or idiopathic. However, there is a lot of uncertainty regarding the diagnosis of severe congenital neutropenia (SCN) and chronic idiopathic neutropenia, and this uncertainty affects further evaluations and treatments. A 20-year-old man presented with fever and knee abrasions after a bicycle accident. On admission, his initial absolute neutrophil count (ANC) was 30/µL. He had no medical history of persistent severe neutropenia with periodic oscillation of ANC. Although his fever resolved after appropriate antibiotic therapy, ANC remained at 80/µL. Bone marrow (BM) aspiration and biopsy were performed, and a BM smear showed myeloid maturation arrest. Moreover, genetic mutation test results showed a heterozygous missense variant in exon 4 of the neutrophil elastase ELANE: c597+1G>C (pV190-F199del). The patient was diagnosed with SCN. After discharge, we routinely checked his ANC level and monitored any signs of infection with minimum use of granulocyte colony-stimulating factor (G-CSF), considering its potential risk of leukemic transformation. Considering that SCN can be fatal, timely diagnosis and appropriate management with G-CSF are essential. We report the case of a patient with SCN caused by ELANE mutation who had atypical clinical manifestations. For a more accurate diagnosis and treatment of severe chronic neutropenia, further studies are needed to elucidate the various clinical features of ELANE.
严重慢性中性粒细胞减少症分为严重先天性、周期性、自身免疫性或特发性。然而，关于严重先天性中性粒细胞减少症（SCN）和慢性特发性中性粒细胞减少症的诊断存在很多不确定性，这种不确定性影响进一步的评估和治疗。一名20岁男性在自行车事故后出现发热和膝盖擦伤。入院时，他的初始绝对中性粒细胞计数（ANC）为30/µL。他没有持续性严重中性粒细胞减少伴ANC周期性波动的病史。尽管经过适当的抗生素治疗后他的发热消退，但ANC仍维持在80/µL。进行了骨髓穿刺和活检，骨髓涂片显示髓系成熟停滞。此外，基因突变检测结果显示中性粒细胞弹性蛋白酶ELANE第4外显子存在杂合错义变异：c597+1G>C（pV190-F199del）。该患者被诊断为SCN。出院后，考虑到粒细胞集落刺激因子（G-CSF）有白血病转化的潜在风险，我们定期检查他的ANC水平并以最少使用G-CSF的方式监测任何感染迹象。鉴于SCN可能致命，及时诊断并使用G-CSF进行适当管理至关重要。我们报告了一例由ELANE突变引起的具有非典型临床表现的SCN患者病例。为了更准确地诊断和治疗严重慢性中性粒细胞减少症，需要进一步研究以阐明ELANE的各种临床特征。
