Abstract

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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