Departments of Gastroenterology and Medicine Pediatrics Ophthalmology Surgery The Division of Advanced Clinical Research for Viral Hepatitis and Liver Cancer, Fukuoka University Faculty of Medicine Department of Medicine, Hakujyuji Hospital Department of Hepatology, Japanese Red Cross Fukuoka Hospital Department of Gastroenterology, Fukuoka City Medical Association Hospital Department of Internal Medicine, Fukuseikai Hospital, Fukuoka, Japan.
Hepatol Res. 2010 Dec;40(12):1204-11. doi: 10.1111/j.1872-034X.2010.00728.x. Epub 2010 Oct 7.
The diagnosis of Wilson disease is based on the results of several clinical and biochemical tests. This study aimed to clarify the clinical features and spectrum of Wilson disease, including severe Wilson disease.
Between 1985 and 2009, 10 patients with clinical, biochemical or histological evidence of Wilson disease were either diagnosed or had a previously established diagnosis confirmed at Fukuoka University Hospital. Severe Wilson disease was defined by a serum prothrombin time ratio of more than 1.5 or serum prothrombin activity of less than 50%. The 10 Wilson disease patients were divided into two groups, one containing three non-severe patients and the other containing seven severe patients, and the biochemical features of the patients in these two groups were compared.
The mean age at diagnosis was 21.5 ± 11.7 years (range, 7-39). Decreased serum ceruloplasmin, enhanced 24-h urinary copper excretion, presence of Kayser-Fleischer rings and histological signs of chronic liver damage were confirmed in 100%, 100%, 66.7% and 100% of patients, respectively. Severe Wilson disease patients had higher levels of serum ceruloplasmin and serum copper (P < 0.05, P < 0.05, respectively) than non-severe patients.
In severe Wilson disease patients, the serum ceruloplasmin and serum copper levels were higher than those in non-severe Wilson disease patients.
Wilson 病的诊断基于多项临床和生化检测的结果。本研究旨在阐明 Wilson 病的临床特征和谱，包括严重 Wilson 病。
1985 年至 2009 年期间，在福冈大学医院，根据临床、生化或组织学证据诊断或确诊了 10 例 Wilson 病患者。严重 Wilson 病定义为血清凝血酶原时间比值大于 1.5 或血清凝血酶原活性小于 50%。将 10 例 Wilson 病患者分为两组，一组 3 例为非严重患者，另一组 7 例为严重患者，并比较两组患者的生化特征。
诊断时的平均年龄为 21.5±11.7 岁（范围 7-39）。100%的患者血清铜蓝蛋白降低，100%的患者 24 小时尿铜排泄增加，66.7%的患者存在 Kayser-Fleischer 环，100%的患者有慢性肝损伤的组织学征象。严重 Wilson 病患者的血清铜蓝蛋白和血清铜水平均高于非严重 Wilson 病患者（P<0.05，P<0.05）。
在严重 Wilson 病患者中，血清铜蓝蛋白和血清铜水平高于非严重 Wilson 病患者。
