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应用高级诊断技术,通过 Karius 测试对血浆微生物游离 DNA 测序,及时识别 4 例青少年旅行者关联钩端螺旋体圣塔丽塔血清群感染

Use of Advanced Diagnostics for Timely Identification of Travel-associated Leptospira santarosai Infection in Four Adolescents Through Plasma Microbial Cell-free DNA Sequencing With the Karius Test.

机构信息

From the Departiment of Pediatrics, Section of Infectious Diseases, University of Colorado School of Medicine, Aurora, Colorado.

Department of Pediatrics, Section of Infectious Diseases, Nationwide Children's Hospital, Columbus, Ohio.

出版信息

Pediatr Infect Dis J. 2024 May 1;43(5):e169-e174. doi: 10.1097/INF.0000000000004255. Epub 2024 Jan 18.

Abstract

BACKGROUND

Leptospirosis is an important zoonotic infection worldwide. Diagnosis of leptospirosis is challenging given its nonspecific clinical symptoms that overlap with other acute febrile illnesses and limitations with conventional diagnostic testing. Alternative advanced diagnostics, such as microbial cell-free DNA (mcfDNA), are increasingly being used to aid in the diagnosis of infections and can be applied to pathogens with public health importance such as Leptospira , a nationally notifiable disease.

METHODS

The Karius Test uses plasma mcfDNA sequencing to detect and quantify DNA-based pathogens. This test offered through the Karius lab detected 4 cases of Leptospira santarosai during a 5-month period across the United States in 2021 and were clinically reviewed.

RESULTS

In our case series, 4 adolescents with recent travel to Central America (Costa Rica, n = 3 and Belize, n = 1) from April to August 2021 were diagnosed with leptospirosis. While a large workup was performed in all cases, mcfDNA testing was the first test to detect L. santarosai as the microbiological diagnosis in all cases.

CONCLUSIONS

Results of the Karius Test enabled rapid, noninvasive diagnosis of leptospirosis allowing for targeted therapy. Use of mcfDNA can be utilized for diagnosis of pathogens where conventional testing is challenging or limited. This in turn can enable quick diagnosis for targeted treatment and potentially aid in supporting case definitions of reportable diseases of public health concern.

摘要

背景

钩端螺旋体病是一种重要的全球人畜共患病感染。由于其非特异性临床症状与其他急性发热性疾病重叠,以及常规诊断检测的局限性,钩端螺旋体病的诊断具有挑战性。替代的先进诊断方法,如微生物无细胞 DNA(mcfDNA),越来越多地被用于辅助感染的诊断,并且可以应用于具有公共卫生重要性的病原体,如钩端螺旋体,这是一种全国性报告疾病。

方法

Karius 测试使用血浆 mcfDNA 测序来检测和定量基于 DNA 的病原体。这项在美国进行的为期 5 个月的检测在 2021 年检测到了 4 例 Leptospira santarosai,共涉及 4 名青少年,他们最近在 4 月至 8 月期间前往中美洲(哥斯达黎加 3 例,伯利兹 1 例)旅行。尽管所有病例都进行了大量的检查,但 mcfDNA 检测是所有病例中首次检测到 L. santarosai 作为微生物学诊断的检测方法。

结论

Karius 测试的结果能够快速、无创地诊断钩端螺旋体病,从而进行靶向治疗。mcfDNA 的使用可用于诊断常规检测具有挑战性或有限的病原体。这反过来又可以快速诊断,进行靶向治疗,并有助于支持具有公共卫生重要性的报告疾病的病例定义。

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