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CASE REPORT article
Front. Pediatr.
Sec. Pediatric Surgery
Volume 13 - 2025 | doi: 10.3389/fped.2025.1527759
This article is part of the Research TopicLiver disease and liver transplantation in childrenView all articles
Living donor liver transplantation for the treatment of recurrent pediatric acute liver failure with neuroblastoma amplified sequence gene mutation：a literature review
Provisionally accepted
Shengying He
Zhu Jin
Xinrong Xia
Chengyan Tang
Yuan Gong
Lu Huang
Qing DuDaiwei ZhuWankang ZhouYuanmei Liu
Zebing Zheng*- 遵义医科大学附属医院, 遵义市, China
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Background:Biallelic mutations in the neuroblastoma amplified sequence (NBAS) gene can cause recurrent acute liver failure (RALF) and multi-systemic disease.Case presentation: Herein, we report a 3-year-old Chinese boy with RALF due to a novel heterozygote mutation c.3596G> A(p.C1199Y)/c.1028G> A(p.S343N) in the NBAS gene, which was identified by whole-exome sequencing. The missense mutation c.3596G> A(p.C1199Y) was inherited from his father, and c.1028G> A(p.S343N) was inherited from his mother. He had suffered six acute liver crises triggered by fever. He eventually underwent living donor liver transplantation (LDLT) at 44 months, with his father donating the left lateral lobe liver, and is now healthy with no recurrence of ALF.We describe a novel pathogenic mutation in the NBAS gene of a patient with RALF and report that LDLT is a safe and efficient treatment for RALF caused by the NBAS gene mutation.
Keywords: neuroblastoma amplified sequence, acute liver failure, Living donor liver transplantation, pediatric liver, gene mutation
Received: 13 Nov 2024; Accepted: 11 Apr 2025.
Copyright: © 2025 He, Jin, Xia, Tang, Gong, Huang, Du, Zhu, Zhou, Liu and Zheng. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Zebing Zheng, 遵义医科大学附属医院, 遵义市, China
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