肝豆状核变性(以下简称肝豆)是一种常染色体隐性遗传性铜代谢缺陷病。由于过量铜沉积于肝、脑、肾及角膜等,临床上出现肝硬化、豆状核变性、角膜色素环及进行性加剧的肢体震颤、肌张力增强,以及血清铜含量、铜氧化酶活力降低等异常。我科近年来收治两例系兄姊同患,报告如下。 Hepatolenticular degeneration (hereinafter referred to as liver beans) is an autosomal recessive genetic defect of copper metabolism. Due to excessive copper deposition in the liver, brain, kidney and cornea, clinical cirrhosis, degeneration, corneal pigment ring and progressive exacerbation of limb tremor, increased muscle tone, and serum copper, copper oxidase activity decreased Abnormal. In recent years, our department admitted two brothers with brothers, report as follows.