Suppr超能文献

一名患有广州型葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症的男婴在过量食用蚕豆后发生溶血性危机。

Hemolytic crisis after excessive ingestion of fava beans in a male infant with G6PD Canton.

作者信息

Shibuya A, Hirono A, Ishii S, Fujii H, Miwa S

机构信息

Department of Pediatrics, Saitama Medical School, Japan.

出版信息

Int J Hematol. 1999 Dec;70(4):233-5.

Abstract

After ingesting fava beans, a 26-month-old Chinese-Japanese male infant showed a sickly complexion and yellowish-brownish skin and was hospitalized. Severe hemolytic anemia was observed on admission, and transfusion of 200 ml of packed red cells was required. Red cell enzyme assay revealed that the patient and the mother were deficient in glucose-6-phosphate dehydrogenase (G6PD). Subsequent molecular analysis showed that the patient had a missense mutation 1376 G to T (G6PD Canton) and his mother was a homozygote for the mutation. The patient was a son of a Chinese (Taiwanese) mother and a Japanese father. Although G6PD deficiency is rare in the original Japanese population, the number of "imported" cases could be rising rapidly. This is the first reported Japanese case of G6PD deficiency with G6PD Canton.

摘要

一名26个月大的中日混血男婴在食用蚕豆后,面色苍白,皮肤呈黄棕色,随后住院治疗。入院时发现严重溶血性贫血,需要输注200毫升浓缩红细胞。红细胞酶分析显示,患者及其母亲缺乏葡萄糖-6-磷酸脱氢酶(G6PD)。随后的分子分析表明,患者存在1376 G到T的错义突变(G6PD广州型),其母亲是该突变的纯合子。患者的母亲是中国人(台湾人),父亲是日本人。虽然G6PD缺乏症在原日本人群中很少见,但“输入性”病例的数量可能正在迅速增加。这是首次报道的日本G6PD广州型缺乏症病例。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验