Moreno Pérez-Crespo J L, García de la Rocha M L, Martín Araguz A, Olmedilla N, Rodríguez Arias C A, Porta J, Moreno Martínez J M
Servicio de Neurología, Hospital del Aire, Madrid.
Rev Neurol. 1995 Jan-Feb;23(119):145-7.
Hepatolenticular degeneration, also known as Wilson's disease (WD), is an infrequent hereditary disorder which is transmitted in recessive autosomic fashion: its genetic defect is to be found in the long branch of chromosome 13 (13q14.3) and allows disorder to take place which has not been sufficiently clarified, in the bilious excretion of the copper (Cu) which is deposited in an anomalous manner on a level with different organic tissues, giving rise to characteristic clinical manifestations which are, basically, of a neurological, hepatic, psychiatric and ocular nature. We present the case of a young patient whose case began, four years ago, with depressive-type manifestations, with diagnosis only being made now. Our opinion on the early detection of asymptomatic patients is commented on, along with that concerning the effectiveness and safety of therapeutic alternatives to D-penicilamine.
肝豆状核变性，又称威尔逊病（WD），是一种罕见的遗传性疾病，以常染色体隐性方式遗传：其基因缺陷位于13号染色体（13q14.3）的长臂上，导致铜（Cu）胆汁排泄紊乱，铜异常沉积在不同有机组织水平，产生特征性临床表现，主要为神经、肝脏、精神和眼部症状。我们报告一例年轻患者，其病例始于四年前，最初表现为抑郁型症状，直至现在才得以确诊。我们对无症状患者早期检测的看法，以及关于D - 青霉胺治疗替代方案的有效性和安全性的看法进行了评论。
