• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

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

迟发性未被怀疑的葡萄糖-6-磷酸脱氢酶缺乏症表现

Late-Life Presentation of Unsuspected G6PD Deficiency.

作者信息

Benchimol Marcos, Madeira Laura Bernardo, de Oliveira-Souza Ricardo

机构信息

Hospital Universitário Clementino Fraga Filho (UFRJ), Rio de Janeiro, Brazil.

The D'Or Institute for Research & Education (IDOR), Rio de Janeiro, Brazil.

出版信息

Case Rep Crit Care. 2018 Sep 25;2018:8198565. doi: 10.1155/2018/8198565. eCollection 2018.

DOI:10.1155/2018/8198565
PMID:30356359
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6176296/
Abstract

Deficiency of glucose-6-phosphate dehydrogenase (G6PD) is the commonest enzyme deficiency in humans with a wide range of possible clinical manifestations depending on the specific genetic variant in each case. Here we present the case of an 86-year-old male of African descent who acutely developed symptoms of G6PD deficiency immediately after he received methylene blue for treating methemoglobinemia. The contrast between a low SO on pulse oximetry and a normal arterial gas sampling raised the possibility of methemoglobinemia. The patient was treated with packed red blood cells and folic acid, and a rapid clinical improvement followed by normalization of the red blood cell count ensued. In view of the patient's advanced age, the lack of a history of similar episodes in the past, and the normal laboratory results during the hemolytic crisis, this case remained a diagnostic challenge for over three months, when a follow-up measure of G6DP activity eventually confirmed the diagnosis. A latent deficiency of G6PD may become clinically manifest under the appropriate triggering conditions even in elderly patients and in the absence of past or current clinical and laboratory evidence of G6PD deficiency.

摘要

葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症是人类最常见的酶缺乏症,根据具体的基因变异情况,可能有广泛的临床表现。在此,我们报告一例86岁非洲裔男性病例,该患者在接受亚甲蓝治疗高铁血红蛋白血症后,急性出现G6PD缺乏症症状。脉搏血氧饱和度低与动脉血气采样正常之间的差异增加了高铁血红蛋白血症的可能性。该患者接受了浓缩红细胞和叶酸治疗,随后临床迅速改善,红细胞计数恢复正常。鉴于患者年龄较大,既往无类似发作史,且溶血危机期间实验室检查结果正常,该病例在三个多月的时间里一直是诊断难题,直到后续检测G6DP活性最终确诊。即使在老年患者中,且既往或当前均无G6PD缺乏症的临床和实验室证据,潜在的G6PD缺乏症在适当的触发条件下也可能表现出临床症状。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/29dd/6176296/adc6159c9c85/CRICC2018-8198565.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/29dd/6176296/adc6159c9c85/CRICC2018-8198565.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/29dd/6176296/adc6159c9c85/CRICC2018-8198565.001.jpg

相似文献

1
Late-Life Presentation of Unsuspected G6PD Deficiency.迟发性未被怀疑的葡萄糖-6-磷酸脱氢酶缺乏症表现
Case Rep Crit Care. 2018 Sep 25;2018:8198565. doi: 10.1155/2018/8198565. eCollection 2018.
2
Rasburicase-Induced Methemoglobinemia in a Patient with Glucose-6- Phosphate Dehydrogenase Deficiency.葡萄糖-6-磷酸脱氢酶缺乏症患者中rasburicase诱发的高铁血红蛋白血症
Curr Drug Saf. 2017;12(1):13-18. doi: 10.2174/1574886312666170111151246.
3
Study of Glucose-6-Phosphate Dehydrogenase Deficiency: 5 Years Retrospective Egyptian Study.葡萄糖-6-磷酸脱氢酶缺乏症研究:埃及5年回顾性研究
Endocr Metab Immune Disord Drug Targets. 2018 Feb 13;18(2):155-162. doi: 10.2174/1871530317666171003160350.
4
Co-Occurring Hemolysis and Methemoglobinemia After COVID-19 Infection in Patient With G6PD Deficiency.葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症患者感染新冠病毒后并发溶血和高铁血红蛋白血症
Cureus. 2023 Feb 15;15(2):e35020. doi: 10.7759/cureus.35020. eCollection 2023 Feb.
5
Mortality following rasburicase-induced methemoglobinemia.尿酸酶诱导高铁血红蛋白血症的死亡率。
Ann Pharmacother. 2013 Oct;47(10):1353-8. doi: 10.1177/1060028013501996. Epub 2013 Oct 21.
6
Diabetic Ketoacidosis Revealing Severe Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD-D) Deficiency with Methemoglobinemia: A Case Report.糖尿病酮症酸中毒并发严重葡萄糖-6-磷酸脱氢酶缺乏症(G6PD-D)伴高铁血红蛋白血症:一例报告
Am J Case Rep. 2019 May 22;20:726-729. doi: 10.12659/AJCR.915007.
7
Syncope Following Treatment of UTI: A Case of Acute Hemolytic Anemia, Methemoglobinemia and Acute Renal Dysfunction Following Phenazopyridine Use in a Patient With G6PD Deficiency.尿路感染治疗后晕厥:1例葡萄糖-6-磷酸脱氢酶(G6PD)缺乏患者使用非那吡啶后发生急性溶血性贫血、高铁血红蛋白血症及急性肾功能不全。
J Community Hosp Intern Med Perspect. 2023 Jan 10;13(1):54-57. doi: 10.55729/2000-9666.1144. eCollection 2023.
8
Glucose-6-Phosphate Dehydrogenase Deficiency-Associated Hemolytic Anemia and Methemoglobinemia in a Patient Treated With Hydroxychloroquine in the Era of COVID-19.新冠疫情时代一名接受羟氯喹治疗患者的葡萄糖-6-磷酸脱氢酶缺乏相关溶血性贫血和高铁血红蛋白血症
Cureus. 2021 May 25;13(5):e15232. doi: 10.7759/cureus.15232.
9
Hemolytic anemia after methylene blue therapy for aniline-induced methemoglobinemia.亚甲蓝治疗苯胺所致高铁血红蛋白血症后发生的溶血性贫血。
Vet Hum Toxicol. 2002 Feb;44(1):19-21.
10
I.V. ascorbic acid for treatment of apparent rasburicase-induced methemoglobinemia in a patient with acute kidney injury and assumed glucose-6-phosphate dehydrogenase deficiency.静脉注射维生素C治疗一名急性肾损伤且疑似葡萄糖-6-磷酸脱氢酶缺乏患者中因使用拉布立酶导致的明显高铁血红蛋白血症。
Am J Health Syst Pharm. 2016 May 1;73(9):e238-42. doi: 10.2146/ajhp150591.

引用本文的文献

1
Favism: A Case Report.蚕豆病:一例病例报告。
Cureus. 2022 Mar 17;14(3):e23269. doi: 10.7759/cureus.23269. eCollection 2022 Mar.

本文引用的文献

1
Severe acute haemolytic anaemia associated with severe methaemoglobinaemia in a G6PD-deficient man.一名葡萄糖-6-磷酸脱氢酶(G6PD)缺乏的男性出现严重急性溶血性贫血并伴有严重高铁血红蛋白血症。
BMJ Case Rep. 2018 Mar 28;2018:bcr-2017-223369. doi: 10.1136/bcr-2017-223369.
2
Review and drug therapy implications of glucose-6-phosphate dehydrogenase deficiency.葡萄糖-6-磷酸脱氢酶缺乏症的综述及药物治疗意义
Am J Health Syst Pharm. 2018 Feb 1;75(3):97-104. doi: 10.2146/ajhp160961. Epub 2018 Jan 5.
3
Methylene Blue Induced Methemoglobinemia with Acute Kidney Injury in a Glucose-6-Phosphate Dehydrogenase-deficient Patient.
葡萄糖-6-磷酸脱氢酶缺乏患者中,亚甲蓝诱发高铁血红蛋白血症伴急性肾损伤
Indian J Nephrol. 2017 Nov-Dec;27(6):465-467. doi: 10.4103/ijn.IJN_316_16.
4
Methemoglobinemia in an elderly patient with glucose-6-phosphate dehydrogenase deficiency: a case report.一名老年葡萄糖-6-磷酸脱氢酶缺乏患者的高铁血红蛋白血症:病例报告。
Oman Med J. 2014 Mar;29(2):135-7. doi: 10.5001/omj.2014.33.
5
Glucose-6-phosphate dehydrogenase deficiency.葡萄糖-6-磷酸脱氢酶缺乏症
Lancet. 2008 Jan 5;371(9606):64-74. doi: 10.1016/S0140-6736(08)60073-2.
6
Glucose-6-phosphate dehydrogenase deficiency: a historical perspective.葡萄糖-6-磷酸脱氢酶缺乏症:历史视角
Blood. 2008 Jan 1;111(1):16-24. doi: 10.1182/blood-2007-04-077412.
7
Negro variant of glucose-6-phosphate dehydrogenase deficiency (A-) in man.人类葡萄糖-6-磷酸脱氢酶缺乏症(A-型)的黑人变异型
Science. 1967 Jan 6;155(3758):97-9. doi: 10.1126/science.155.3758.97.
8
Distribution and heredity of erythrocyte G6PD activity and electrophoretic variants among different racial groups at São Paulo, Brazil.巴西圣保罗不同种族群体中红细胞葡萄糖-6-磷酸脱氢酶(G6PD)活性及电泳变异体的分布与遗传情况。
J Med Genet. 1969 Mar;6(1):48-54. doi: 10.1136/jmg.6.1.48.
9
In vivo lability of glucose-6-phosphate dehydrogenase in GdA- and GdMediterranean deficiency.葡萄糖-6-磷酸脱氢酶在GdA和地中海型Gd缺乏症中的体内不稳定性。
J Clin Invest. 1968 Apr;47(4):940-8. doi: 10.1172/JCI105786.
10
Glucose-6-phosphate dehydrogenase deficiency. WHO Working Group.葡萄糖-6-磷酸脱氢酶缺乏症。世界卫生组织工作组。
Bull World Health Organ. 1989;67(6):601-11.