Suppr超能文献

一例急性间歇性卟啉病导致一名21岁年轻女性严重残疾的病例。

A Case of Acute Intermittent Porphyria Leading to Severe Disability in a Young 21-Year-Old Female.

作者信息

Ramzan Adil, Cao Jenny Jia Ling, Frazer John S, Stein Penelope, Ahmad Shakeel

机构信息

Stroke Medicine, Whipps Cross Hospital, London, GBR.

Endocrinology and Diabetes, Peterborough City Hospital, Peterborough, GBR.

出版信息

Cureus. 2023 Feb 8;15(2):e34757. doi: 10.7759/cureus.34757. eCollection 2023 Feb.

Abstract

Acute intermittent porphyria (AIP) is a rare metabolic disorder that is challenging to diagnose and treat. Symptoms are nonspecific and severe acute attacks may be life-threatening. This is a case of a previously healthy 21-year-old woman diagnosed with an acute attack of AIP following recurrent hospitalizations with undiagnosed abdominal pain over a 12-month period with gradual onset of motor neuropathy which resulted in complete paralysis and respiratory failure. Through our case, we will highlight the challenges in AIP diagnosis and management, its potential severity, and how an early diagnosis could have prevented severe disability.

摘要

急性间歇性卟啉病(AIP)是一种罕见的代谢紊乱疾病,诊断和治疗颇具挑战性。其症状不具特异性,严重急性发作可能危及生命。这是一例先前健康的21岁女性病例,该患者在12个月内因未确诊的腹痛反复住院,随后被诊断为AIP急性发作,同时逐渐出现运动神经病变,导致完全瘫痪和呼吸衰竭。通过我们的病例,我们将突出AIP诊断和管理中的挑战、其潜在严重性,以及早期诊断如何能够预防严重残疾。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/049d/10005849/1de0e2a35bd6/cureus-0015-00000034757-i01.jpg

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