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ISSN 1001-5256 (Print)
ISSN 2097-3497 (Online)
CN 22-1108/R
Volume 36 Issue 9
Sep.  2020
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A case of recurrent liver dysfunction caused by NBAS gene mutation

DOI: 10.3969/j.issn.1001-5256.2020.09.034
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  • Published Date: 2020-09-20
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  • [1] MAKSIMOVA N,HARA K,NIKOLAEVA I,et al. Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huet anomaly[J]. J Med Genet,2010,47(8):538-548.
    [2] SEGARRA NG,BALLHAUSEN D,CRAWFORD H,et al. NBAS mutations cause a multisystem disorder involving bone,connective tissue,liver,immune system,and retina[J]. Am J Med Genet A,2015,167A(12):2902-2912.
    [3] GU JL,WANG WJ,LI L,et al. A novel compound heterozygous mutation in NBAS gene causes SOPH syndrome and liver function damage[J]. Chin J Pediatr,2019,57(6):487-489.(in Chinese)谷加丽,王文建,李莉,等.NBAS基因变异导致SOPH综合征和肝功能损伤一例[J].中华儿科杂志,2019,57(6):487-489.
    [4] CAPO-CHICHI JM,MEHAWEJ C,DELAGUE V,et al. Neuroblastoma Amplified Sequence(NBAS)mutation in recurrent acute liver failure:Confirmatory report in a sibship with very early onset,osteoporosis and developmental delay[J]. Eur J Med Genet,2015,58(12):637-641.
    [5] REGATEIRO FS,BELKAYA S,NEVES N,et al. Recurrent elevated liver transaminases and acute liver failure in two siblings with novel bi-allelic mutations of NBAS[J]. Eur J Med Genet,2017,60(8):426-432.
    [6] LI JQ,QIU YL,GONG JY,et al. Novel NBAS mutations and feverrelated recurrent acute liver failure in Chinese children:A retrospective study[J]. BMC Gastroenterol,2017,17(1):77.
    [7] STAUFNER C,HAACK TB,KOPKE MG,et al. Recurrent acute liver failure due to NBAS deficiency:Phenotypic spectrum,disease mechanisms,and therapeutic concepts[J]. J Inherit Metab Dis,2016,39(1):3-16.
    [8] ONO S,MATSUDA J,WATANABE E,et al. Novel neuroblastoma amplified sequence(NBAS)mutations in a Japanese boy with fever-triggered recurrent acute liver failure[J]. Hum Genome Var,2019,6:2.
    [9] PENG SS,YANG YF. Clinical features and diagnosis of inherited metabolic liver disease[J]. J Clin Hepatol,2019,35(8):1663-1666.(in Chinese)彭姗姗,杨永峰.遗传代谢性肝病的临床特征及诊断思路[J].临床肝胆病杂志,2019,35(8):1663-1666.
    [10] ABUDUXIKUER KEBJ,WANG JS. Myriad faces of genetic liver disorders[J]. J Clin Hepatol,2019,35(8):1657-1662.(in Chinese)库尔班江·阿布都西库尔,王建设.遗传性肝病之“百变面孔”[J].临床肝胆病杂志,2019,35(8):1657-1662.
    [11] CALVO PL,TANDOI F,HAAK TB,et al. NBAS mutations cause acute liver failure:When acetaminophen is not a culprit[J]. Ital J Pediatr,2017,43(1):88.
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