Diagnosis by metagenomic next-generation sequencing of invasive pulmonary aspergillosis in an infant with Chronic Granulomatous Disease: A case report. human metagenome

Invasive pulmonary aspergillosis (IPA) is a life-threatening lung disease of immunocompromised individuals. IPA is typically caused by Aspergillus fumigatus, a species of fungus with a tendency for infection of pulmonary blood vessels and bronchi. As a well-known complication, IPA is a leading cause of death forpatients with chronic granulomatous disease (CGD), a primary immunodeficiency disorder that increases a patient's susceptibility to severe infections caused byparticular bacteria and fungi. Thus, it is very important to identify the pathogen and begin pathogen-directed therapy as soon as possible for CGD patientscomplicated by IPA. In this study, we report a case of IPA in a CGD infant in which the pathogen was quickly detected by bronchoalveolar lavage fluid (BALF) next-generation sequencing (mNGS) and treated with appropriate antifungal therapy.This report uses mNGS to clarify the etiology of IPA. Case details and clinical characteristics of IPA are summarized in order to improve disease outcomes and to reduce misdiagnosis.

侵袭性肺曲霉病（Invasive pulmonary aspergillosis, IPA）是一类发生于免疫功能低下人群的致死性肺部疾病。IPA通常由烟曲霉（Aspergillus fumigatus）引起，该真菌具有侵袭肺血管与支气管的倾向。作为一种公认的并发症，IPA是慢性肉芽肿病（chronic granulomatous disease, CGD）患者的主要致死原因之一；CGD是一种原发性免疫缺陷病，会提升患者对特定细菌与真菌引发的重症感染的易感性。因此，对于并发IPA的CGD患者而言，尽快明确病原体并启动针对性抗病原体治疗极为重要。本研究报道了1例CGD患儿并发IPA的病例，通过支气管肺泡灌洗液（bronchoalveolar lavage fluid, BALF）宏基因组二代测序（metagenomic next-generation sequencing, mNGS）快速检出病原体，并给予了恰当的抗真菌治疗。本病例报告借助mNGS明确了IPA的病因，同时总结了IPA的病例细节与临床特征，以期改善该病的诊疗结局、减少误诊。