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微滴式数字PCR辅助诊断不明原因发热儿童——1例典型病例报告

Droplet digital PCR aids in the diagnosis of children with fever of unknown origin --A typical case report.

作者信息

Yang Ying, Hua Chunzhen, Liu Yan, Yang Cheng, Mi Yumei, Qiu Wei

机构信息

Department of Infectious Diseases, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, 3333 Binsheng Road, Binjiang District, Hangzhou, Zhejiang, 310052, China.

Department of Expanded Program on Immunization, Hangzhou Center for Disease Control and Prevention, Hangzhou, Zhejiang, 310021, China.

出版信息

Heliyon. 2024 May 9;10(10):e30961. doi: 10.1016/j.heliyon.2024.e30961. eCollection 2024 May 30.

Abstract

Many clinical conditions can cause fever of unknown origin (FUO) in children, but the etiological diagnosis remains challenging despite the variety of inspection methods available at present. This study aims to investigate the effectiveness of droplet digital polymerase chain reaction (ddPCR) in identifying pathogens in children with FUO as a novel application. A 7-month-old boy failed to obtain etiology evidence for his disease through various tests. After collecting peripheral blood for ddPCR analysis, and were detected, and Sanger sequencing confirmed the pathogens. During the disease, the child developed septic arthritis and osteomyelitis in the femur. Despite the patient's fever being removed, his limb activity improving, and inflammatory biomarkers decreasing, avascular necrosis of the femoral head remained after targeted antibiotic treatment and surgery. If the patient had undergone ddPCR analysis at an early stage, it may be possible to avoid sequelae. ddPCR helps identify pathogens in the diagnosis of children with FUO and could be a promising complementary tool.

摘要

许多临床病症可导致儿童不明原因发热(FUO),尽管目前有多种检查方法,但病因诊断仍具有挑战性。本研究旨在探讨液滴数字聚合酶链反应(ddPCR)作为一种新应用在识别FUO儿童病原体方面的有效性。一名7个月大的男孩通过各种检查未能获得其疾病的病因证据。采集外周血进行ddPCR分析后,检测到了[具体病原体1]和[具体病原体2],并通过桑格测序确认了病原体。患病期间,该儿童发生了化脓性关节炎和股骨骨髓炎。尽管患者发热消退、肢体活动改善且炎症生物标志物下降,但在针对性抗生素治疗和手术后,股骨头仍出现了缺血性坏死。如果患者在早期进行ddPCR分析,可能避免后遗症。ddPCR有助于在FUO儿童诊断中识别病原体,可能是一种有前景的辅助工具。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/339e/11109792/3e3bf75c7221/gr1.jpg

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