Diagnosis by metagenomic next-generation sequencing of invasive pulmonary aspergillosis in an infant with chronic granulomatous disease

Aimei Yang; Chun Wang; Peiling Chen; Guilang Zheng; Zhenjun Zhao; Jian Liu; Jingwen Zhang; Jing Wang; Yueyu Sun; Juhua Yang; Yuxiong Guo

doi:10.1016/j.rmcr.2022.101792

Diagnosis by metagenomic next-generation sequencing of invasive pulmonary aspergillosis in an infant with chronic granulomatous disease

Respir Med Case Rep. 2022 Dec 12:41:101792. doi: 10.1016/j.rmcr.2022.101792. eCollection 2023.

Authors

Aimei Yang¹, Chun Wang¹, Peiling Chen¹, Guilang Zheng¹, Zhenjun Zhao², Jian Liu³, Jingwen Zhang¹, Jing Wang¹, Yueyu Sun¹, Juhua Yang⁴, Yuxiong Guo¹

Affiliations

¹ Department of Pediatric Intensive Care Unit, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China.
² Department of Radiology, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China.
³ Department of Pathology, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China.
⁴ Vision Medicals Co. Ltd, Guangzhou, China.

Abstract

Invasive pulmonary aspergillosis (IPA) is a serious fungal infection, with a high degree of mortality in immunocompromised individuals. Diagnosis of IPA is challenging in that clinical manifestations are not specific, with sensitivity of traditional detection procedures low. We report a case of IPA in a chronic granulomatous disease (CGD) infant who was initially suspected to have a lung tumor. Aspergillus fumigatus was identified as the pathogen in bronchoalveolar lavage fluid (BALF) by next-generation sequencing (mNGS). The patient recovered rapidly following a change of appropriate antifungal treatment and was discharged. This case highlights the additional value of BALF-mNGS for the diagnosis of pediatric invasive pulmonary fungal infection in immune-deficient children.

Keywords: Aspergillus fumigatus; Bronchoalveolar lavage fluid; Case report; Chronic granulomatous disease; Metagenomic next-generation sequencing.

Publication types

Case Reports