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病例报告:儿童急性肝衰竭的新病因:人类疱疹病毒 6 感染与 NBAS 基因纯合突变的联合作用。

Case report: A novel cause of acute liver failure in children: A combination of human herpesvirus-6 infection and homozygous mutation in NBAS gene.

机构信息

Department of Pediatric Intensive Care Unit, Maternal and Child Health Hospital of Hubei Province (Women and Children's Hospital of Hubei Province), Wuhan, China.

出版信息

J Clin Lab Anal. 2022 May;36(5):e24343. doi: 10.1002/jcla.24343. Epub 2022 Mar 29.

Abstract

Etiologies of acute liver failure in children can be multiple factors including virus infection, drug-induced damage, and different pathogens. Next-generation sequencing (NGS) is an emerging method for pan-pathogen screening. Here we reported a case of acute liver failure in a 15-month-old male, using NGS and gene sequencing to determine the cause of acute liver failure may be caused by pathogens, drug-induction and pathogenic variant gene.

摘要

儿童急性肝衰竭的病因可以是多种因素,包括病毒感染、药物性肝损伤和不同的病原体。下一代测序(NGS)是一种新兴的泛病原体筛查方法。本研究报道了 1 例 15 月龄男性急性肝衰竭病例,采用 NGS 和基因测序确定引起急性肝衰竭的可能病因是病原体感染、药物诱导和致病性变异基因。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/61be/9102514/81cfd8bdf389/JCLA-36-e24343-g001.jpg

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