肺泡灌洗液靶向二代测序诊断惠普尔养障体肺部感染一例并文献复习

Bronchoalveolar lavage fluid targeted next-generation sequencing diagnoses pulmonary infection due to tropheryma whipplei: a case report and literature review

摘要

目的 探讨经支气管镜肺泡灌洗液（BALF）靶向二代测序（tNGS）对惠普尔养障体（TW）肺炎的诊断价值，提高对该罕见病的辨识。方法 回顾性分析1例经肺泡灌洗标本tNGS检出TW肺部感染病例，并进行文献复习。结果 初始予以美罗培南联合复方磺胺甲唑片，治疗1周后加莫西沙星及多西环素强化治疗，出院后予头孢地尼联合多西环素口服序贯治疗维持，影像学随访显示病灶进行性吸收好转，随访6月无复发征象。结论 惠普尔病（WD）是TW引起的累及多系统的慢性感染性疾病，WD的诊断目前尚无统一诊疗标准，该病例肺泡灌洗液经tNGS检出高序列数TW获得关键诊断依据，肺泡灌洗液或组织标本经tNGS检出TW对惠普尔病有重要诊断价值。

Abstract

Objective To explore the diagnostic value of targeted next-generation sequencing (tNGS) of bronchoalveolar lavage fluid (BALF) obtained via bronchoscopy for pneumonia caused by tropheryma whipplei (TW) and to enhance the recognition of this rare disease. Methods A retrospective analysis was conducted on a case of pulmonary TW infection diagnosed via tNGS of a BALF specimen, followed by a literature review. Results Initial treatment consisted of meropenem combined with compound sulfamethoxazole tablets, followed by intensified therapy with the addition of moxifloxacin and doxycycline. After discharge, maintenance therapy with cefdinir combined with oral doxycycline was administered. Follow-up imaging showed progressive absorption and improvement of the lesions. The patient was followed for over half a year with no signs of recurrence. Conclusion Whipple’s disease (WD) is a chronic, multi-systemic infectious disease caused by TW. Currently, there is no unified diagnostic and therapeutic standard for WD. In this case, the detection of a high sequence count of TW in the BALF specimen by tNGS indicated crucial diagnostic evidence. The detection of TW in BALF or tissue samples via tNGS holds significant diagnostic value for WD. This article, combined with the literature review, discusses the value of tNGS in the diagnosis of pulmonary TW infection and the characteristics of its treatment outcome.

关键词

惠普尔养障体 / 惠普尔病 / 靶向二代测序 / 肺部感染

Key words

tropheryma whipplei / whipple’s disease / targeted next-generation sequencing / pulmonary infection

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基金资助

贵州省科技创新平台项目(黔科合平台CPTXM(2025)017)

贵州省科技计划项目(黔科合基础-ZK(2023)重点060)

贵州省卫生健康委临床重点专科一攀峰计划建设项目(GZWJWPF2025010)