Ferenci Peter
Department of Internal Medicine 3, Gastroenterology and Hepatology, Medical University of Vienna, Vienna, Austria.
Handb Clin Neurol. 2017;142:171-180. doi: 10.1016/B978-0-444-63625-6.00014-8.
Clinical presentation of Wilson disease can vary widely; therefore diagnosis is not always straightforward. Wilson disease is not just a disease of children and young adults, but may present at any age. The key features of Wilson disease are liver disease and cirrhosis, neuropsychiatric disturbances, Kayser-Fleischer rings, and acute episodes of hemolysis, often in association with acute liver failure. Diagnosis is particularly difficult in children and in adults presenting with active liver disease. None of the available laboratory tests is perfect and may not be specific for Wilson disease. A detailed neurologic examination is required for all cases. Neuroimaging and electrophysiologic methods are helpful. To overcome the diagnostic challenge, several clinical signs (Kayser-Fleischer rings, neurologic symptoms) and laboratory features (copper in serum, urine, liver; serum ceruloplasmin; genetic testing) are scored 0 (absent) to 2 (present) and the Leipzig score is calculated. If the score is ≥4, the diagnosis of Wilson disease is very likely. For asymptomatic siblings of index patients, mutation analysis is the most reliable approach.
肝豆状核变性的临床表现差异很大；因此诊断并不总是一目了然。肝豆状核变性并非仅见于儿童和青年，而是可在任何年龄出现。肝豆状核变性的关键特征包括肝脏疾病和肝硬化、神经精神障碍、凯-弗环以及溶血急性发作，常与急性肝衰竭相关。在患有活动性肝病的儿童和成人中，诊断尤为困难。现有的实验室检查均不完善，可能并非肝豆状核变性所特有。所有病例均需进行详细的神经系统检查。神经影像学和电生理方法有助于诊断。为应对诊断挑战，对若干临床体征（凯-弗环、神经症状）和实验室特征（血清、尿液、肝脏中的铜；血清铜蓝蛋白；基因检测）进行评分，0分为无，2分为有，并计算莱比锡评分。如果评分≥4分，则很可能诊断为肝豆状核变性。对于索引患者的无症状同胞，突变分析是最可靠的方法。
