학술논문
Severe congenital neutropenia mimicking chronic idiopathic neutropenia: a case report.
Document Type
Report
Author
Kim J; Department of Hematology/Oncology, Kyungpook National University Hospital, School of Medicine, Kyungpook National University, Daegu, Korea.; Hwang S; Department of Infectious Diseases, Kyungpook National University Chilgok Hospital, School of Medicine, Kyungpook National University, Daegu, Korea.; Hwang N; Department of Clinical Pathology, School of Medicine, Kyungpook National University, Daegu, Korea.; Department of Laboratory Medicine, Kyungpook National University Chilgok Hospital, Daegu, Korea.; Lee Y; Department of Internal Medicine, Kyungpook National University Hospital, Daegu, Korea.; Cho HJ; Department of Hematology/Oncology, Kyungpook National University Hospital, School of Medicine, Kyungpook National University, Daegu, Korea.; Moon JH; Department of Hematology/Oncology, Kyungpook National University Chilgok Hospital, School of Medicine, Kyungpook National University, Daegu, Korea.; Sohn SK; Department of Hematology/Oncology, Kyungpook National University Hospital, School of Medicine, Kyungpook National University, Daegu, Korea.; Baek DW; Department of Hematology/Oncology, Kyungpook National University Chilgok Hospital, School of Medicine, Kyungpook National University, Daegu, Korea.
Source
Publisher: Yeungnam University College of Medicine Country of Publication: Korea (South) NLM ID: 9918333886606676 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2799-8010 (Electronic) Linking ISSN: 27998010 NLM ISO Abbreviation: J Yeungnam Med Sci Subsets: PubMed not MEDLINE
Subject
Language
English
Abstract
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.