一名日本新生儿病例，患有葡萄糖-6-磷酸脱氢酶缺乏症，表现为严重黄疸和溶血性贫血，无明显诱因。
A Japanese neonatal case of glucose-6-phosphate dehydrogenase deficiency presenting as severe jaundice and hemolytic anemia without apparent trigger.
作者信息
Tsuzuki Shinya, Akahira-Azuma Moe, Kaneshige Masao, Shoya Kazuhiro, Hosokawa Shinichi, Kanno Hitoshi, Matsushita Takeji
机构信息
Department of Pediatrics, National Center for Global Health and Medicine (NCGM), 1-21-1 Toyama, Shinjuku-ku, 162-0855 Tokyo, Japan.
出版信息
Springerplus. 2013 Sep 4;2:434. doi: 10.1186/2193-1801-2-434. eCollection 2013.
BACKGROUND
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is rare among Japanese ethnicity although it is known as one of the most common hereditary disorders of erythrocytes, causing intravascular hemolysis. It is well-known that G6PD deficiency may cause hemolysis even in the neonatal period. However, most cases are asymptomatic, and the frequency of severe anemia is low.
FINDINGS
We describe a Japanese male neonatal case of G6PD deficiency presenting as severe, persistent indirect hyperbilirubinemia on day 2 and hemolytic anemia. He was born to non-consanguineous Japanese parents without any family history. We could not find any triggers that could have induced hemolysis during pregnancy.
CONCLUSIONS
This case encouraged us to investigate G6PD deficiency as a differential diagnosis of severe neonatal jaundice and hemolytic anemia despite the low prevalence in Japan.
背景
葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症在日本人群中较为罕见，尽管它是最常见的红细胞遗传性疾病之一，可导致血管内溶血。众所周知，G6PD缺乏症甚至在新生儿期也可能导致溶血。然而，大多数病例无症状，严重贫血的发生率较低。
研究结果
我们描述了一例日本男性新生儿G6PD缺乏症病例，该患儿在出生第2天表现为严重、持续性间接高胆红素血症和溶血性贫血。他的父母为非近亲结婚的日本人，无任何家族病史。我们未发现孕期可能诱发溶血的任何诱因。
结论
尽管G6PD缺乏症在日本的患病率较低，但该病例促使我们将其作为严重新生儿黄疸和溶血性贫血的鉴别诊断进行研究。
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