摘要
铜蓝蛋白在人体铜的转运和铁代谢中起着重要的作用。肝豆状核变性、遗传性铜蓝蛋白缺乏症和Menkes综合征均可表现为血浆铜蓝蛋白降低。其中,遗传性铜蓝蛋白缺乏症是铜蓝蛋白基因变异导致铁异常沉积于脑、肝脏等组织所产生的疾病。临床表现为痴呆、舞蹈样动作、糖尿病、视网膜变性等。肝豆状核变性因其不典型的肾脏、血液、骨骼、精神等系统损害的表现常被误诊。本文介绍了铜蓝蛋白的代谢和表现为低铜蓝蛋白血症的几种神经变性疾病。
Ceruloplasmin plays an important role in the transportation of copper and iron homeostasis. Wilson＇s disease, aceruloplasminia and Menkes syndrome all demonstrate low serum levels of ceruloplasmin. Aceruloplasminia is a newly recognized metabolic disorder associated with specific inherited mutations in the ceruloplasmin gene. Iron deposits in liver, brain and other organs. Clinical features consist of dementia, chorea, diabetic mellitus, and retinal degeneration. Wilson＇s disease is always misdiagnosised by its non-typical impairments of kidney, blood, skeleton and mentality. Here we introduce the metabolism of ceruloplasmin and several neurodegenerative diseases which might have some hypoceruloplasminemic manifestations.
出处
《中国临床神经科学》
2006年第1期86-89,共4页
Chinese Journal of Clinical Neurosciences
