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Case Reports
. 2025 Apr 30:13:1527759.
doi: 10.3389/fped.2025.1527759. eCollection 2025.

Case Report: Living donor liver transplantation for the treatment of recurrent pediatric acute liver failure with neuroblastoma amplified sequence gene mutation: a literature review

Shengying He  1   2 , Yi Zhao  1   2 , Zhu Jin  1   2 , Xinrong Xia  1   2 , Chengyan Tang  1   2 , Yuan Gong  1   2 , Lu Huang  1   2 , Qing Du  1   2 , Daiwei Zhu  1   2 , Wankang Zhou  1   2 , Yuanmei Liu  1   2 , Zebing Zheng  1   2
Affiliations
Case Reports

Case Report: Living donor liver transplantation for the treatment of recurrent pediatric acute liver failure with neuroblastoma amplified sequence gene mutation: a literature review

Shengying He et al. Front Pediatr. .

Abstract

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, 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.

Conclusion: 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: acute liver failure; gene mutation; living donor liver transplantation; neuroblastoma amplified sequence; pediatric liver.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

Figure 1
Figure 1
The NBAS mutation causes microvesicular steatosis and fibrosis. (A) Hematoxylin-eosin (H&E) stained liver biopsy shows hepatocytes with vacuolization, many lymphocytes and neutrophils infiltrated, and mild fibrosis in the portal area on routine compared with his father's hepatocytes. (B) The NBAS immunohistochemistry stained in the liver showed that the level of NBAS was significantly decreased in the patient compared with his father's hepatocytes. (C) Positive cytokeratin 7 stained ductular proliferations. (D) The perilipin 2 immunohistochemistry stain shows mild microvesicular steatosis. NBAS, neuroblastoma amplified sequence.
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References

    1. Haack TB, Staufner C, Kopke MG, Straub BK, Kolker S, Thiel C, et al. Biallelic mutations in NBAS cause recurrent acute liver failure with onset in infancy. Am J Hum Genet. (2015) 97:163–9. doi: 10.1016/j.ajhg.2015.05.009 - PMC - PubMed
    1. Segarra NG, Ballhausen D, Crawford H, Perreau M, Campos-Xavier B, van Spaendonck-Zwarts K, et al. NBAS Mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina. Am J Med Genet A. (2015) 167A:2902–12. doi: 10.1002/ajmg.a.37338 - PubMed
    1. Staufner C, Haack TB, Kopke MG, Straub BK, Kolker S, Thiel C, et al. Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts. J Inherit Metab Dis. (2016) 39:3–16. doi: 10.1007/s10545-015-9896-7 - PubMed
    1. Dayan RR, Bignall Ii ONR, Johnson S, Flores F, Volovelsky O. Neuroblastoma amplified sequence gene mutations inducing acute kidney and liver injury in an adolescent female. Case Rep Nephrol Dial. (2020) 10:117–23. doi: 10.1159/000508784 - PMC - PubMed
    1. Geem D, Jiang W, Rytting HB, Chandrakasan S, Salem A, Stevens JP, et al. Resolution of recurrent pediatric acute liver failure with liver transplantation in a patient with NBAS mutation. Pediatr Transplant. (2021) 25:e14084. doi: 10.1111/petr.14084 - PMC - PubMed

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