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一名2.5岁男童的2型急性婴儿肝衰竭综合征：病例报告

Acute infantile liver failure syndrome type 2 in a 2.5-year-old boy: A case report.

作者信息

Shabani-Mirzaee Hosein, Sayarifard Fatemeh, Malekiantaghi Armen, Eftekhari Kambiz

机构信息

Department of Pediatric Endocrinology Bahrami Children's Hospital Tehran University of Medical Sciences Tehran Iran.

Department of Pediatric Endocrinology Children's Medical Hospital Center Tehran University of Medical Sciences Tehran Iran.

出版信息

Clin Case Rep. 2023 Sep 7;11(9):e7892. doi: 10.1002/ccr3.7892. eCollection 2023 Sep.

DOI:10.1002/ccr3.7892
PMID:37692149
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10485241/
Abstract

KEY CLINICAL MESSAGE

Infantile liver failure type 2 is described as repeated attacks of liver dysfunction with remission. This syndrome should be considered in the differential diagnosis of any child with symptoms of recurrent hepatic encephalopathy.

ABSTRACT

Infantile liver failure syndrome 2 is described as recurrent attacks of liver dysfunction. ILFS2 should be included in the differential diagnosis of children with frequent and acute liver failure. We present a 2.5-year-old boy with clinical manifestation of acute liver failure. In past, he had two similar attacks.

摘要

关键临床信息

2型婴儿肝衰竭表现为肝功能障碍反复发作并缓解。对于任何有反复肝性脑病症状的儿童，鉴别诊断时都应考虑这种综合征。

摘要

2型婴儿肝衰竭综合征表现为肝功能障碍反复发作。频繁急性肝衰竭患儿的鉴别诊断应包括2型婴儿肝衰竭综合征（ILFS2）。我们报告一名2.5岁急性肝衰竭临床表现的男孩。过去，他曾有过两次类似发作。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ceb0/10485241/a0c62660a032/CCR3-11-e7892-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ceb0/10485241/a0c62660a032/CCR3-11-e7892-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ceb0/10485241/a0c62660a032/CCR3-11-e7892-g001.jpg

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2
RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities.RINT1 基因的双等位基因突变可导致婴儿期起病的复发性急性肝衰竭和骨骼异常。
Am J Hum Genet. 2019 Jul 3;105(1):108-121. doi: 10.1016/j.ajhg.2019.05.011. Epub 2019 Jun 13.
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Novel NBAS mutations and fever-related recurrent acute liver failure in Chinese children: a retrospective study.
中国儿童新型NBAS突变与发热相关的复发性急性肝衰竭：一项回顾性研究。
BMC Gastroenterol. 2017 Jun 19;17(1):77. doi: 10.1186/s12876-017-0636-3.
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[Acute liver failure related to inherited metabolic diseases in young children].[幼儿遗传性代谢疾病相关的急性肝衰竭]
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