摘要
儿童噬血细胞综合征（HLH）是一种罕见但危及生命的免疫系统疾病，因其临床表现多样且缺乏特异性，常被误诊为其他疾病，如脓毒症。本研究旨在通过分析一例儿童HLH误诊为脓毒症的病例，探讨其误诊原因并提出早期识别策略。研究回顾性分析了该患儿的临床资料、实验室检查结果及治疗过程，并结合相关文献进行综合评估。结果显示，该患儿因发热、肝脾肿大和血液指标异常而被初步诊断为脓毒症，但在抗生素治疗无效后进一步检查发现符合HLH诊断标准。研究发现，HLH与脓毒症在临床表现上存在重叠，但铁蛋白显著升高、溶血性贫血和低纤维蛋白原等特征可作为鉴别要点。本研究创新性地总结了一套基于动态监测和多学科协作的早期筛查流程，有助于提高临床医生对HLH的认识，减少误诊率，从而改善患儿预后。关键词：儿童噬血细胞综合征；误诊原因；早期识别策略；铁蛋白显著升高；多学科协作
Case Analysis of Hemophagocytic Syndrome in Children Misdiagnosed as Sepsis
Abstract
Hemophagocytic lymphohistiocytosis (HLH) in children is a rare but life-threatening immunological disorder that is often misdiagnosed as other diseases, such as sepsis, due to its nonspecific and diverse clinical manifestations. This study aims to explore the reasons for misdiagnosis and propose early identification strategies by analyzing a case of pediatric HLH initially misdiagnosed as sepsis. A retrospective analysis was conducted on the clinical data, laboratory findings, and treatment process of the patient, supplemented by a comprehensive evaluation based on relevant literature. The results indicated that the child was initially diagnosed with sepsis due to fever, hepatosplenomegaly, and abnormal blood indices; however, further examination revealed compliance with HLH diagnostic criteria after antibiotic therapy proved ineffective. The study found that while HLH and sepsis share overlapping clinical features, significantly elevated ferritin levels, hemolytic anemia, and low fibrinogen can serve as critical distinguishing points. Innovatively, this study summarizes an early screening protocol based on dynamic monitoring and multidisciplinary collaboration, which can enhance clinicians' awareness of HLH, reduce misdiagnosis rates, and ultimately improve patient outcomes.
Keywords: Children Hemophagocytic Syndrome; Misdiagnosis Causes; Early Recognition Strategies; Significantly Elevated Ferritin; Multi-Disciplinary Collaboration
目录
摘要 I
Abstract II
引言 1
1 儿童噬血细胞综合征概述 1
1.1 疾病定义与特征 1
1.2 发病机制分析 2
1.3 临床表现特点 2
2 脓毒症误诊相关因素分析 2
2.1 临床症状的相似性 3
2.2 实验室检查的局限性 3
2.3 医疗决策中的偏差 3
3 误诊案例的具体分析 4
3.1 案例背景与诊断过程 4
3.2 误诊原因的深入探讨 4
3.3 正确诊断的关键节点 5
4 预防误诊的策略与建议 5
4.1 提高疾病认知水平 5
4.2 完善诊断流程设计 6
4.3 推动多学科协作诊疗 6
结论 7
参考文献 8
致谢 9
