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Management Perspective of Wilson's Disease: Early Diagnosis and Individualized Therapy.

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机构: [1]Department of Neurology, TongRen Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China [2]Affiliated Hospital of the Institute of Neurology, Anhui University of Chinese Medicine, Hefei, China
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关键词: Wilson’s disease ceruloplasmin copper homeostasis genetics diagnosis management

摘要:
Wilson's disease (WD) is an inherited disease caused by mutations in ATP7B and is characterized by the pathological accumulation of copper in the liver and brain. Common clinical manifestations of WD include a wide range of liver disease and neurological symptoms. In some patients, psychiatric symptom may be the only manifestation at the time of diagnosis. The clinical features of WD are highly variable and can mimic any disease of the internal medicine. Therefore, for unexplained medical diseases, the possibility of WD should not be ignored. Early diagnosis and treatment can improve the prognosis of WD patients and reduce disability and early death. Gene sequencing is becoming a valuable method to diagnose WD, and if possible, all WD patients and their siblings should be genetically sequenced. Copper chelators including Dpenicillamine, trientine, and dimercaptosuccinic acid can significantly improve the liver injury and symptoms of WD patients, but may have limited effect on neurological symptoms. Zinc salts may be more appropriate for the treatment of asymptomatic patients or for the maintenance treatment of symptomatic patients. High-quality clinical trials for the drug treatment of WD are still lacking, therefore, individualized treatment options for patients are recommended. Individualized treatment can be determined based on the clinical features of the WD patients, efficacy and adverse effects of the drugs, and the experience of the physician. Liver transplantation is the only effective method to save patients with acute liver failure or with severe liver disease who fail drug treatment.Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.net.

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出版当年[2019]版
大类 | 2 区 医学
小类 | 2 区 药学 3 区 神经科学
最新[2025]版
大类 | 3 区 医学
小类 | 2 区 药学 3 区 神经科学
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第一作者机构: [1]Department of Neurology, TongRen Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China
通讯作者:
通讯机构: [1]Department of Neurology, TongRen Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China [*1]Department of Neurology, TongRen Hospital, Shanghai Jiao Tong University School of Medicine, No.1111 Xianxia Road, 200336, Shanghai, China
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