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
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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。
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.

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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.
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