Gastroenterology and Hepatology Service, Internal Medicine Department, Federal University of Parana, Curitiba, Paraná, Brazil.
Clinics (Sao Paulo). 2011;66(3):411-6. doi: 10.1590/s1807-59322011000300008.
Long-term data on the clinical follow-up and the treatment effectiveness of Wilson's disease are limited because of the low disease frequency. This study evaluated a retrospective cohort of Wilson's disease patients from southern Brazil during a 40-year follow-up period.
Thirty-six Wilson's disease patients, diagnosed from 1971 to 2010, were retrospectively evaluated according to their clinical presentation, epidemiological and social features, response to therapy and outcome.
Examining the patients' continental origins showed that 74.5% had a European ancestor. The mean age at the initial symptom presentation was 23.3 ± 9.3 years, with a delay of 27.5 ± 41.9 months until definitive diagnosis. At presentation, hepatic symptoms were predominant (38.9%), followed by mixed symptoms (hepatic and neuropsychiatric) (30.6%) and neuropsychiatric symptoms (25%). Kayser-Fleischer rings were identified in 55.6% of patients, with a higher frequency among those patients with neuropsychiatric symptoms (77.8%). Eighteen patients developed neuropsychiatric features, most commonly cerebellar syndrome. Neuroradiological imaging abnormalities were observed in 72.2% of these patients. Chronic liver disease was detected in 68% of the patients with hepatic symptoms. 94.2% of all the patients were treated with D-penicillamine for a mean time of 129.9 ± 108.3 months. Other treatments included zinc salts, combined therapy and liver transplantation. After initiating therapy, 78.8% of the patients had a stable or improved outcome, and the overall survival rate was 90.1%.
This study is the first retrospective description of a population of Wilson's disease patients of mainly European continental origin who live in southern Brazil. Wilson's disease is treatable if correctly diagnosed, and an adequate quality of life can be achieved, resulting in a long overall survival.
由于威尔逊病的发病率较低，因此长期的临床随访和治疗效果数据有限。本研究评估了来自巴西南部的 36 例威尔逊病患者，随访时间为 40 年。
回顾性评估了 1971 年至 2010 年间诊断的 36 例威尔逊病患者，评估内容包括临床表现、流行病学和社会特征、治疗反应和结局。
观察患者的大陆起源，发现 74.5%的患者有欧洲祖先。首次出现症状的平均年龄为 23.3±9.3 岁，确诊前的平均延迟时间为 27.5±41.9 个月。就诊时，肝症状占主导地位（38.9%），其次是混合症状（肝和神经精神症状）（30.6%）和神经精神症状（25%）。55.6%的患者存在凯氏环，有神经精神症状的患者中凯氏环的发生率更高（77.8%）。18 例患者出现神经精神症状，最常见的是小脑综合征。72.2%的神经精神症状患者存在神经影像学异常。有肝症状的患者中，慢性肝病的发生率为 68%。所有患者中有 94.2%接受了 D-青霉胺治疗，平均时间为 129.9±108.3 个月。其他治疗包括锌盐、联合治疗和肝移植。开始治疗后，78.8%的患者病情稳定或改善，总体生存率为 90.1%。
本研究首次回顾性描述了居住在巴西南部的主要来自欧洲大陆的威尔逊病患者人群。如果正确诊断，威尔逊病是可治疗的，并且可以获得良好的生活质量，从而实现长期的总体生存。
