| NBAS基因缺陷所致儿童反复肝功能异常1例 |
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| 引用本文： | 王春妍,张彦,王凤梅,陆伟,文君,赵黎莉,冯雪,李嘉. NBAS基因缺陷所致儿童反复肝功能异常1例[J]. 中华肝脏病杂志, 2020, 0(1): 80-82 |
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| 作者姓名： | 王春妍 张彦 王凤梅 陆伟 文君 赵黎莉 冯雪 李嘉 |
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| 作者单位： | 天津市第二人民医院;天津医科大学肿瘤医院 |
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| 摘 要： | 现报道1例6岁男性患儿,临床反复出现肝脏损伤,肝损伤前均有发热,最终诊断为NBAS基因缺陷。与未发现NBAS突变的患者不同,确诊有NBAS突变的患者在每次肝功能损伤前均患有发热性疾病,发热24~72 h后可出现肝功能异常,甚至肝衰竭。以此提醒广大临床医师,反复出现发热相关性肝脏损伤患者应注意NBAS基因缺陷可能。
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| 关 键 词： | 肝功能异常 NBAS基因缺陷 儿童 |
A case of recurrent abnormal liver function in children resulting from neuroblastoma amplified sequence gene defect |
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| Wang Chunyan,Zhang Yan,Wang Fengmei,Lu Wei,Wen Jun,Zhao Lili,Feng Xue,Li Jia. A case of recurrent abnormal liver function in children resulting from neuroblastoma amplified sequence gene defect[J]. Chinese journal of hepatology, 2020, 0(1): 80-82 |
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| Authors: | Wang Chunyan Zhang Yan Wang Fengmei Lu Wei Wen Jun Zhao Lili Feng Xue Li Jia |
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| Affiliation: | (Tianjin Second People’s Hospital,Tianjin Hepatopathy Research Institute,Tianjin 300192,China;Tianjin Medical University Cancer Institute and Hospital,Tianjin 300192,China) |
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| Abstract: | |
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| Keywords: | Recurrent liver dysfunction NBAS gene defect Children |
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