【摘要】 葡萄糖-6-磷酸脱氢酶(glucose-6-phosphate dehydrogenase,G6PD)缺乏症是常见的酶缺陷病,全球有超过5亿人受到影响,患者多为2～10岁儿童,通常为急性起病,表现为急性溶血性贫血,目前临床上G6PD缺乏症患者急性溶血性贫血合并重症肝炎的病例较为少见。本文报告了1例以急性溶血性贫血合并重症肝炎为表现,给予对症支持治疗后迅速恢复的病例。结合患儿临床资料、辅助检查及基因测序结果进行分析,总结G6PD缺乏症导致急性溶血性贫血合并重症肝炎的临床、遗传学特征。此外,本例患儿基因测序检测出1个新的G6PD基因突变位点c.1478G>A(p.Arg493His),扩展了临床对G6PD缺乏症合并严重肝功能损害的遗传学认识。更多还原

【Abstract】 G6 PD(glucose-6-phosphate dehydrogenase) deficiency is the most common enzyme deficiency disease in humans affecting over 500 million people worldwide, with most patients being children aged 2 to 10 years. G6 PD deficiency usually has an acute onset and manifests as acute hemolytic anemia. Clinically, G6 PD deficiency leads to acute hemolytic anemia and cases with severe hepatitis are relatively rare. This article reports a case of acute hemolytic anemia complicated by severe hepatitis, which made a rapid recovery after supportive symptomatic treatment. It analyzes the results of the child’s clinical data, auxiliary examinations and gene sequencing, and summarizes the clinical and genetic characteristics of acute hemolytic anemia complicated by severe hepatitis caused by G6 PD deficiency. In addition, the genetic sequencing of this patient detected a new mutation site of the G6 PD gene c.1478 G>A(p.Arg493 His), which expands the clinical genetic understanding of G6 PD deficiency with severe liver damage.更多还原