威尔逊氏病——急性发作时的疑难诊断。

Q3 Medicine Acute Medicine Pub Date : 2023-01-01 DOI:10.52964/AMJA.0941
J Baker, S Chakraborty, R Buccoliero, S Thakur
{"title":"威尔逊氏病——急性发作时的疑难诊断。","authors":"J Baker,&nbsp;S Chakraborty,&nbsp;R Buccoliero,&nbsp;S Thakur","doi":"10.52964/AMJA.0941","DOIUrl":null,"url":null,"abstract":"<p><p>Wilson's disease is a rare genetic disorder that affects copper metabolism in the body, leading to excess copper accumulation in various organs, including the liver and brain. It often presents to both primary and secondary care, with a combination of liver disease and neurological or psychiatric symptoms, but the presentation can be highly variable. Early recognition and treatment of Wilson's disease is important to prevent critical hepatic and neurological complications. In this case report, we describe the presentation of an 18-year-old male university student with a combination of dysphagia, tremors, and slurred speech, which progressed over several months. Through a series of investigations, the patient was diagnosed with Wilson's disease and received appropriate treatment. This report highlights the importance of considering Wilson's disease in patients with a wide range of symptoms and the need for a pragmatic approach to diagnosis, including routine and additional testing as necessary.</p>","PeriodicalId":39743,"journal":{"name":"Acute Medicine","volume":"22 2","pages":"96-100"},"PeriodicalIF":0.0000,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Wilson's disease - a tricky diagnosis on the acute take.\",\"authors\":\"J Baker,&nbsp;S Chakraborty,&nbsp;R Buccoliero,&nbsp;S Thakur\",\"doi\":\"10.52964/AMJA.0941\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Wilson's disease is a rare genetic disorder that affects copper metabolism in the body, leading to excess copper accumulation in various organs, including the liver and brain. It often presents to both primary and secondary care, with a combination of liver disease and neurological or psychiatric symptoms, but the presentation can be highly variable. Early recognition and treatment of Wilson's disease is important to prevent critical hepatic and neurological complications. In this case report, we describe the presentation of an 18-year-old male university student with a combination of dysphagia, tremors, and slurred speech, which progressed over several months. Through a series of investigations, the patient was diagnosed with Wilson's disease and received appropriate treatment. This report highlights the importance of considering Wilson's disease in patients with a wide range of symptoms and the need for a pragmatic approach to diagnosis, including routine and additional testing as necessary.</p>\",\"PeriodicalId\":39743,\"journal\":{\"name\":\"Acute Medicine\",\"volume\":\"22 2\",\"pages\":\"96-100\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Acute Medicine\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.52964/AMJA.0941\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Acute Medicine","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.52964/AMJA.0941","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0

摘要

威尔逊氏病是一种罕见的遗传性疾病,它会影响体内铜的代谢,导致包括肝脏和大脑在内的各个器官中铜的过量积累。它经常出现在初级和二级保健中,并伴有肝脏疾病和神经或精神症状,但其表现可能变化很大。早期识别和治疗肝豆状核变性对于预防严重的肝脏和神经系统并发症非常重要。在这个病例报告中,我们描述了一个18岁的男性大学生的表现,他伴有吞咽困难、颤抖和言语不清,病情持续了几个月。通过一系列的调查,患者被诊断为威尔逊病,并接受了适当的治疗。本报告强调了在广泛症状的患者中考虑威尔逊氏病的重要性,以及需要一种实用的诊断方法,包括必要的常规和额外检测。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
Wilson's disease - a tricky diagnosis on the acute take.

Wilson's disease is a rare genetic disorder that affects copper metabolism in the body, leading to excess copper accumulation in various organs, including the liver and brain. It often presents to both primary and secondary care, with a combination of liver disease and neurological or psychiatric symptoms, but the presentation can be highly variable. Early recognition and treatment of Wilson's disease is important to prevent critical hepatic and neurological complications. In this case report, we describe the presentation of an 18-year-old male university student with a combination of dysphagia, tremors, and slurred speech, which progressed over several months. Through a series of investigations, the patient was diagnosed with Wilson's disease and received appropriate treatment. This report highlights the importance of considering Wilson's disease in patients with a wide range of symptoms and the need for a pragmatic approach to diagnosis, including routine and additional testing as necessary.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
Acute Medicine
Acute Medicine Medicine-Emergency Medicine
CiteScore
1.50
自引率
0.00%
发文量
32
期刊介绍: These are usually commissioned by the editorial team in accordance with a cycle running over several years. Authors wishing to submit a review relevant to Acute Medicine are advised to contact the editor before writing this. Unsolicited review articles received for consideration may be included if the subject matter is considered of interest to the readership, provided the topic has not already been covered in a recent edition. Review articles are usually 3000-5000 words and may include tables, pictures and other figures as required for the text. Include 3 or 4 ‘key points’ summarising the main teaching messages.
期刊最新文献
Point-of-care ultrasound for the diagnosis of an atypical small bowel obstruction in a cannabis user: a case report. Editorial - Acute Medical Care: "Exit block". Improving Telemetry use in the Acute Assessment Unit. Point of Care Ultrasound Bladder Volume Calculation on the Acute Medical Unit. Evaluating dynamic patterns in mortality before and after reconfiguration of the Danish emergency healthcare system.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1