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宏基因组下一代测序诊断的播散性细粒棘球蚴病 1 例报告。

Disseminated alveolar echinococcosis in a patient diagnosed by metagenomic next-generation sequencing: A case report.

机构信息

Center of Infectious Disease, West China Hospital of Sichuan University, Chengdu, China.

Pathology Department, West China Hospital, Sichuan University, Chengdu, China.

出版信息

Front Public Health. 2022 Aug 25;10:972619. doi: 10.3389/fpubh.2022.972619. eCollection 2022.

Abstract

BACKGROUND

Alveolar echinococcosis (AE) is a parasitic zoonosis with high mortality and disability rates. Diverse clinical manifestations and mimicking of differential diagnoses such as tuberculosis and malignancy pose a diagnostic dilemma. With the rapid development of molecular diagnostic techniques in recent years, metagenomic next-generation sequencing (mNGS) has become an attractive approach for the etiological diagnosis of infectious diseases.

CASE PRESENTATION

we report a case of 51-year-old Chinese Tibetan male presented with 3-year low-back pain and 4-month discomfort in the right upper quadrant of the abdomen. He had been in good health. He was diagnosed with tuberculosis and was given anti-tuberculosis treatment a month prior to the visit, but the symptoms were not relieved. Abdominal computerized tomography (CT) revealed a hypodense lesion with uneven enhancement in the liver, and two ring-enhancing cystic lesions in the right abdominal wall. Lumbar spine enhanced MRI showed lesions of mixed density with uneven enhancement in the L1 vertebra and paraspinal tissue. The pathological results of the liver biopsy revealed parasitic infection and possibly echinococcosis. The metagenomic next-generation sequencing (mNGS) of the puncture fluid of abdominal cysts using Illumina X10 sequencer revealed 585 sequence reads matching . Disseminated AE was diagnosed. Albendazole (400 mg, twice daily) was used, and the patient was in stable condition during follow-up.

CONCLUSIONS

mNGS may be a useful tool for the diagnosis of AE. The case would help clinicians to improve their diagnostic skills.

摘要

背景

泡型包虫病(AE)是一种具有高死亡率和致残率的寄生虫性人畜共患病。多样的临床表现和类似于结核病和恶性肿瘤等疾病的鉴别诊断,导致诊断困难。近年来,随着分子诊断技术的快速发展,宏基因组下一代测序(mNGS)已成为一种有吸引力的传染病病因诊断方法。

病例介绍

我们报告了一例 51 岁的中国藏族男性病例,该患者有 3 年的腰痛和 4 个月的右上腹不适病史。他身体健康,在就诊前一个月被诊断为肺结核,并接受了抗结核治疗,但症状并未缓解。腹部计算机断层扫描(CT)显示肝脏内有一个低密病灶,增强不均匀,右侧腹壁有两个环状增强的囊性病灶。腰椎增强 MRI 显示 L1 椎体和椎旁组织有混杂密度病变,增强不均匀。肝活检的病理结果显示寄生虫感染,可能为包虫病。使用 Illumina X10 测序仪对腹部囊肿的穿刺液进行宏基因组下一代测序(mNGS),显示 585 个匹配序列读段. 诊断为播散性泡型包虫病。给予阿苯达唑(400mg,每日 2 次)治疗,随访期间患者情况稳定。

结论

mNGS 可能是诊断 AE 的有用工具。该病例有助于临床医生提高诊断技能。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c56d/9454002/cd1439dac1c9/fpubh-10-972619-g0001.jpg

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