Müller T, Müller W, Feichtinger H
Department of Pediatrics, University of Innsbruck, Austria.
Am J Clin Nutr. 1998 May;67(5 Suppl):1082S-1086S. doi: 10.1093/ajcn/67.5.1082S.
Liver diseases of infancy and childhood are generally rare and within the spectrum of these disorders, only a few subtypes are related to abnormal hepatic copper accumulation. Idiopathic copper toxicosis has been defined as such a subtype; although this disease is characterized by distinct clinical and pathologic features, its exact etiology is still controversial. On the basis of a review of the literature, supplemented by our own observations of 138 cases endemic to western Austria, we hypothesize that idiopathic copper toxicosis is caused by a synergy of an autosomal-recessive inherited defect in copper metabolism and excess dietary copper. Increased awareness of the disease should enable early diagnosis and lead to successful treatment, thereby improving the overall poor prognosis of affected patients.
婴儿期和儿童期的肝脏疾病通常较为罕见，在这些疾病范围内，只有少数亚型与肝脏铜蓄积异常有关。特发性铜中毒已被定义为这样一种亚型；尽管这种疾病具有独特的临床和病理特征，但其确切病因仍存在争议。在回顾文献的基础上，辅以我们对奥地利西部138例地方病病例的观察，我们推测特发性铜中毒是由铜代谢的常染色体隐性遗传缺陷与过量膳食铜的协同作用引起的。提高对该疾病的认识应能实现早期诊断并带来成功的治疗，从而改善受影响患者总体较差的预后。
