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以多发性肺部感染为表现的古德综合征:一例涉及宏基因组测序诊断的病例报告

Good syndrome presenting with multiple pulmonary infections: a case report involving metagenomic sequencing diagnosis.

作者信息

Zeng Wenjing, Feng Xiaoyi, Liang Binmiao, Ou Xuemei

机构信息

Department of Pulmonary and Critical Care Medicine, West China Hospital, Sichuan University, Chengdu, China.

Department of Respiratory and Critical Care Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China.

出版信息

Front Med (Lausanne). 2025 Aug 19;12:1649584. doi: 10.3389/fmed.2025.1649584. eCollection 2025.

Abstract

Good syndrome (GS), alternatively termed thymoma with immunodeficiency, is a rare adult-onset immunodeficiency disorder characterized by concurrent thymoma and hypogammaglobulinemia, accompanied by defects in both B-cell-mediated immunity and T-cell-mediated immunity. Owing to the non-specific clinical presentation, diagnosis is frequently delayed, resulting in poor prognosis and elevated mortality. In this study, we report the case of a 69-year-old man with GS who presented with symptoms of recurrent cough and productive sputum. Metagenomic next-generation sequencing (mNGS) of oropharyngeal swabs detected multiple microorganisms, including SARS-CoV-2 (35,047 reads), Epstein-Barr virus (7,236 reads), (3,674 reads), Bacillus spp. (3,284 reads), cytomegalovirus (1,203 reads), and herpes simplex virus type 1 (575 reads). Following a comprehensive clinical evaluation-including recurrent pulmonary infections, history of thymoma, and lymphopenia with immunodeficiency-the diagnosis of GS was confirmed. This patient received an intensified anti-infective regimen, with broad-spectrum carbapenem, meropenem, as the backbone therapy, combined with antifungal agents and antiviral treatment (IV ganciclovir and oral molnupiravir). After aggressive anti-infection therapy, the patient experienced clinical improvement, and chest CT demonstrated significant radiographic improvement. Although intravenous immunoglobulin (IVIG) is foundational in GS, intensive antimicrobial therapy is also critical for clinical outcomes.

摘要

古德综合征(GS),又称胸腺oma伴免疫缺陷,是一种罕见的成人发病免疫缺陷疾病,其特征为同时存在胸腺oma和低丙种球蛋白血症,伴有B细胞介导免疫和T细胞介导免疫缺陷。由于临床表现不具特异性,诊断常常延迟,导致预后不良和死亡率升高。在本研究中,我们报告了一例69岁患有GS的男性患者,其表现为反复咳嗽和咳痰症状。口咽拭子的宏基因组下一代测序(mNGS)检测到多种微生物,包括严重急性呼吸综合征冠状病毒2(SARS-CoV-2,35047条 reads)、爱泼斯坦-巴尔病毒(7236条 reads)、(3674条 reads)、芽孢杆菌属(3284条 reads)、巨细胞病毒(1203条 reads)和单纯疱疹病毒1型(575条 reads)。经过全面的临床评估,包括反复肺部感染、胸腺oma病史以及伴有免疫缺陷的淋巴细胞减少症,确诊为GS。该患者接受了强化抗感染方案,以广谱碳青霉烯类美罗培南作为主要治疗药物,联合抗真菌药物和抗病毒治疗(静脉注射更昔洛韦和口服莫努匹拉韦)。经过积极抗感染治疗后,患者临床症状改善,胸部CT显示影像学有显著改善。虽然静脉注射免疫球蛋白(IVIG)是GS的基础治疗,但强化抗菌治疗对临床结局也至关重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d44f/12401675/340a7e8fb501/fmed-12-1649584-g001.jpg

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