葡萄糖-6-磷酸脱氢酶缺乏症的发病机制及诊疗现状

Pathogenesis and present situation of diagnosis and treatment of glucose-6-phosphate dehydrogenase deficiency

葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症是一种X连锁不完全显性遗传病，可引发新生儿高胆红素血症。该病患者在无明显诱因影响下，可仅有轻微甚至无临床症状，而在摄入蚕豆、使用氧化性药物、发生感染等诱因下可出现急性溶血反应。G6PD基因突变造成的酶活性异常是该病的主要发病原因。目前，G6PD缺乏症筛查与诊断的主要方法是G6PD活性检测和检测G6PD基因突变位点。本文就近年来G6PD缺乏症的临床特点、发病机制、诊断和治疗的研究进展进行综述。

Glucose-6-phosphate dehydrogenase （G6PD） deficiency, as an X-linked incomplete dominant genetic disease, which is a causation of neonatal hyperbilirubinemia. The G6PD deficiency patients can only have slight or no clinical symptoms under the influence of no obvious inducement, but the acute hemolytic reaction occurs under the inducement of taking the fava bean, using the oxidizing medicine and infection. Abnormal G6PD activity caused by mutations of G6PD gene is the main reason of G6PD deficiency. Currently, the major methods for screening and diagnosis of G6PD deficiency are the examination of G6PD activity and detection of mutation sites of G6PD gene. This paper will review the research progress of the clinical features, pathogenesis, diagnosis and treatment of G6PD deficiency in recent years.