A case of recurrent liver dysfunction caused by NBAS gene mutation
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摘要:
<正>1病例资料患者男性,17岁。因"发热咳嗽3 d"于2018年9月29日来本院诊治。患者10年前因"高热"后出现"瑞氏综合征",遗留"癫痫"病史,长期服用"丙戊酸钠",癫痫控制尚可。入院3 d前出现畏寒、发热达39℃,咽部不适,有咳嗽、无咳痰,自行服用"头孢氨苄分散片及奥司他韦"2 d,体温未下降。12月29日测最高体温39.8℃,再次至本院门诊就诊,胸片示两下肺少许渗出,怀疑肺炎并收治入院。入院体格检查:体温40.2℃,脉搏120次/min,呼吸21次/min,血压106/70 mm Hg。神志清,
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Key words:
- liver diseases /
- point mutation /
- recurrence /
- diagnosis
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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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