葡萄糖－6－磷酸脱氢酶缺乏
原作者： Walid Hammad，肖锋译 文章来源： 《中华急诊医学杂志》编辑部 发布日期：2013-02-25

Title: Glucose 6 Phosphate Dehydrogenase deficiency

题目：葡萄糖－6－磷酸脱氢酶缺乏

Author 作者: Walid Hammad

- The most common disease producing enzymopathy in humans

是人类最常见的代谢性酶病

- Affects 400 million people worldwide

全世界有4亿人受影响

- Highest prevalence is among persons of African, Asian, and Mediterranean descent

最高发病人群是非洲，亚洲，和地中海后裔

- Patients can be asymptomatic but may present with symptoms of acute hemolytic anemia, which may be precipitated by certain medications (Oxidative medications) or foods (some types of beans)

病人可能没有症状，或出现急性溶血性贫血的表现。症状可由一些药物（氧化性药物）或食物（某些豆类）

- Avoid oxidative drugs (consult your PharmD when your patient has G6PDd)

避免氧化性药物（遇到有G6PDd的病人要与药剂师咨询）

- Diagnosis: Measure the actual enzyme activity of G6PD rather than the amount of the enzyme. A more practical test is the presence of Indirect hyperbilirubinemia, but it is non specific

诊断：测定G6PD酶活性，而不是酶的量。另外一个较实用的实验是间接高胆红素血症，但它不特异

- Treatment consists of oxygen and bed rest in minor cases. However, severe cases may require PRBC transfusion

如病情轻，治疗上可只给氧和卧床休息，但重的病人却需要输血。

References 参考文献

Beutler E. Glucose-6-phosphate dehydrogenase deficiency: a historical perspective. Blood. Jan 1 2008;111(1):16-24.

Nkhoma ET, Poole C, Vannappagari V, et al. The global prevalence of glucose-6-phosphate dehydrogenase deficiency: a systematic review and meta-analysis. Blood Cells Mol Dis. May-Jun 2009;42(3):267-278.