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Wilson 病患者的工作能力评估。

Work ability assessment in a patient with Wilson's disease.

机构信息

University of Belgrade School of Medicine, Serbia.

出版信息

Arh Hig Rada Toksikol. 2011 Jun;62(2):163-7. doi: 10.2478/10004-1254-62-2011-2102.

Abstract

Wilson's disease (WD) is a rare, progressive autosomal recessive disorder characterised by impaired transport and excessive accumulation of copper in the liver, brain, and other tissues. The disease is diagnosed based on clinical manifestations and screening tests results. Work ability assessment of patients with WD is based on the analysis of liver, kidney, neurological, and cognitive impairments, and takes into account patient's level of education.This article presents a case with a 48-year-old male patient, who was admitted for work ability assessment due to polymorphic symptoms. The patient had been working as a salesman for 28 years. A detailed interview and examination by occupational health and other medical specialists revealed that the patient had been suffering from Wilson's disease from the age of 13, and had now developed hepatic manifestations (compensated liver cirrhosis with portal hypertension), neurological manifestations (dystonia, dysarthria, muscle weakness, vertigo), and psychiatric manifestations (depression, insomnia, cognitive impairment) of the disease, including problems partially caused by long-lasting treatment with copper chelating agents (neurological and haematological manifestations). There were no ocular manifestations of Wilson's disease (Kayser-Fleischer rings or sunflower cataract).The patient was assessed as having drastically diminished general work ability, dominantly due to neurological and psychiatric impairments caused by Wilson's disease.

摘要

威尔逊病(WD)是一种罕见的进行性常染色体隐性遗传病,其特征是肝脏、大脑和其他组织中铜的转运和过度积累受损。该疾病的诊断基于临床表现和筛查试验结果。WD 患者的工作能力评估基于对肝脏、肾脏、神经和认知损伤的分析,并考虑到患者的教育水平。本文介绍了一位 48 岁男性患者的病例,因多种症状入院进行工作能力评估。该患者从事销售工作 28 年。职业健康和其他医学专家的详细访谈和检查显示,该患者从 13 岁开始患有威尔逊病,现在已经出现肝脏表现(代偿性肝硬化伴门静脉高压)、神经表现(肌张力障碍、构音障碍、肌肉无力、眩晕)和精神科表现(抑郁、失眠、认知障碍),包括由长期使用铜螯合剂治疗引起的部分问题(神经和血液学表现)。威尔逊病没有眼部表现(Kayser-Fleischer 环或向日葵白内障)。该患者被评估为总体工作能力严重下降,主要是由于威尔逊病引起的神经和精神损伤所致。

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