Suppr超能文献

葡萄糖-6-磷酸脱氢酶缺乏症的罕见表现

A Rare Presentation of Glucose-6-Phosphate Dehydrogenase Deficiency.

作者信息

Tyagi Neha, Premkumar Varsha, Patil Manojkumar G, Tambolkar Sampada, Mane Shailaja V

机构信息

Pediatrics, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Pune, IND.

出版信息

Cureus. 2024 Jul 5;16(7):e63879. doi: 10.7759/cureus.63879. eCollection 2024 Jul.

Abstract

Approximately 400 million individuals globally experience glucose-6-phosphate dehydrogenase (G6PD) insufficiency, an enzymatic condition that may be hazardous. Because of mutations in the gene, which result in functional variants alongside a variety of biochemical and clinical symptoms, this condition is an X-linked hereditary genetic disorder. Our case is that of a 12-year-old male child who presented with acute liver failure and later on, exhibited signs of hemolysis as well. We had to rule out the possibilities of acetaminophen toxicity and hepatitis A before reaching the conclusion that an underlying G6PD deficiency was being exacerbated by viral infection and simultaneous ingestion of non-steroidal anti-inflammatory drugs (NSAIDs).

摘要

全球约有4亿人患有葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症,这是一种可能有危险的酶缺乏状况。由于该基因发生突变,导致出现功能变异以及各种生化和临床症状,这种状况是一种X连锁遗传性疾病。我们的病例是一名12岁男童,他最初出现急性肝衰竭,后来又表现出溶血迹象。在得出潜在的G6PD缺乏症因病毒感染和同时服用非甾体抗炎药(NSAIDs)而加重这一结论之前,我们必须排除对乙酰氨基酚中毒和甲型肝炎的可能性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1850/11298028/217a2f8d65b9/cureus-0016-00000063879-i01.jpg

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验