病例报告：一例罕见的成人ELANE相关严重先天性中性粒细胞减少症病例，由中性粒细胞缺乏性小肠结肠炎引起
{"_":"Case Report: A rare adult case of -related severe congenital neutropenia revealed by neutropenic enterocolitis.","i":["ELANE"]}
摘要(中文译文)
重型先天性中性粒细胞减少症（SCN）是一种罕见的血液系统疾病，以自幼儿期开始的反复发作且可能危及生命的感染为特征，伴绝对中性粒细胞计数（ANC）低于0.5×10⁹/L。基因突变是SCN最常见的病因。中性粒细胞减少性小肠结肠炎（NE）等胃肠道并发症作为先天性中性粒细胞减少症的首发表现鲜有报道。本文报告一例18岁男性患者，终生有反复发作的口腔溃疡、中耳炎和皮肤感染病史，因间歇性腹痛就诊。计算机断层扫描显示弥漫性肠壁增厚，结肠镜检查发现结肠狭窄。由于梗阻症状进行性加重，患者接受了腹腔镜右半结肠切除术。初步组织病理学分析提示溃疡性结肠炎（UC）的诊断。然而，术后持续存在的重度中性粒细胞减少引起了对其他潜在病因的怀疑。随后的全外显子组测序在该基因中鉴定出一个杂合的可能致病性变异，从而确立了SCN的诊断。回顾性临床病理学再评估表明，其胃肠道表现更符合继发于慢性中性粒细胞减少的NE，而非原发性炎症性肠病。据我们所知，这是首批以NE为主要表现的基因相关SCN病例之一。本病例拓展了SCN的临床谱系，并强调对于伴有持续中性粒细胞减少的不明原因胃肠道炎症患者，应考虑先天性中性粒细胞减少症，以避免误诊并优化管理。
Abstract
Severe congenital neutropenia (SCN) is a rare hematologic disorder characterized by recurrent and potentially life-threatening infections beginning in early childhood, associated with absolute neutrophil counts (ANCs) below 0.5×10/L. Mutations in the gene are the most prevalent cause of SCN. Gastrointestinal complications such as neutropenic enterocolitis (NE) are rarely reported as presenting manifestations of congenital neutropenia. Herein, we report an 18-year-old male with a lifelong history of recurrent oral ulcers, otitis, and skin infections, who presented with intermittent abdominal pain. Computed tomography demonstrated diffuse bowel wall thickening, and colonoscopy revealed a colonic stricture. Due to progressive obstructive symptoms, the patient underwent a laparoscopic right hemicolectomy. The preliminary histopathological analysis indicated a diagnosis of ulcerative colitis (UC). However, persistent severe neutropenia following surgery raised suspicion of an alternative underlying etiology. Subsequent whole-exome sequencing identified a heterozygous likely pathogenic variant in the gene, establishing the diagnosis of SCN. Retrospective clinicopathological reassessment indicated that the gastrointestinal manifestations were more consistent with NE secondary to chronic neutropenia, rather than primary inflammatory bowel disease. To our knowledge, this is among the first reported cases of -related SCN presenting predominantly as NE. This case expands the clinical spectrum of SCN and highlights the importance of considering congenital neutropenia in patients with unexplained gastrointestinal inflammation accompanied by persistent neutropenia, to avoid misdiagnosis and optimize management.
如何引用
AMA
Zhenhua Jiang, Diya Wen, Yuanyuan Liu, Mingyue Shi, Qiuyu Liu, Yanliang Bai. {"_":"Case Report: A rare adult case of -related severe congenital neutropenia revealed by neutropenic enterocolitis.","i":["ELANE"]}. Frontiers in immunology. 2026; doi:10.3389/fimmu.2026.1881387.
APA
Zhenhua Jiang, Diya Wen, Yuanyuan Liu, Mingyue Shi, Qiuyu Liu, Yanliang Bai (2026). {"_":"Case Report: A rare adult case of -related severe congenital neutropenia revealed by neutropenic enterocolitis.","i":["ELANE"]}. Frontiers in immunology. https://doi.org/10.3389/fimmu.2026.1881387
GB/T 7714
Zhenhua Jiang, Diya Wen, Yuanyuan Liu, Mingyue Shi, Qiuyu Liu, Yanliang Bai. {"_":"Case Report: A rare adult case of -related severe congenital neutropenia revealed by neutropenic enterocolitis.","i":["ELANE"]}[J]. Frontiers in immunology, 2026 doi:10.3389/fimmu.2026.1881387.
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