Miyajima H
First Department of Medicine, Hamamatsu University School of Medicine.
Rinsho Shinkeigaku. 2000 Dec;40(12):1290-2.
Ceruloplasmin is an abundant alpha 2-serum glycoprotein that contains greater than 95% of the copper present in human plasma. It is synthesized mainly in the liver. Aceruloplasminemia is an autosomal recessive disorder affecting iron metabolism, originally called familial apoceruloplasmin deficiency, which manifests late-onset blepharospasm and retinal degeneration. Subsequent investigations have found patients with late adult onset of ataxia and diabetes mellitus. Our patients have also shown diabetes. Clinically, aceruloplasminemia is a triad consisting of neurologic disease, retinal degeneration, and diabetes. This disease is characterized by mutations in the ceruloplasmin gene and iron accumulation in the retina and basal ganglia as well as in parenchymal tissues caused by a complete deficiency of ceruloplasmin ferroxidase activity. The neurological symptoms in affected patients include involuntary movements, ataxia, and dementia reflecting the sites of iron deposition detected by MRI as well as the regions of neurodegeneration observed at autopsy. Consistent with this observation, ceruloplasmin gene expression is detected in the retina and basal ganglia revealing that this protein is essential for iron homeostasis neuron survival in the central nervous system. The unique involvement of the central nervous system distinguishes aceruloplasminemia from other inherited and acquired iron storage disorders.
铜蓝蛋白是一种丰富的α2-血清糖蛋白，其含有人血浆中95%以上的铜。它主要在肝脏中合成。无铜蓝蛋白血症是一种影响铁代谢的常染色体隐性疾病，最初称为家族性脱辅基铜蓝蛋白缺乏症，表现为迟发性眼睑痉挛和视网膜变性。随后的研究发现患者有成人晚期共济失调和糖尿病。我们的患者也出现了糖尿病。临床上，无铜蓝蛋白血症是由神经疾病、视网膜变性和糖尿病组成的三联征。这种疾病的特征是铜蓝蛋白基因突变以及由于铜蓝蛋白铁氧化酶活性完全缺乏导致视网膜、基底神经节以及实质组织中铁的蓄积。受影响患者的神经症状包括不自主运动、共济失调和痴呆，这反映了MRI检测到的铁沉积部位以及尸检时观察到的神经退行性变区域。与此观察结果一致，在视网膜和基底神经节中检测到铜蓝蛋白基因表达，表明该蛋白对于中枢神经系统中铁稳态和神经元存活至关重要。中枢神经系统的独特受累将无铜蓝蛋白血症与其他遗传性和获得性铁储存疾病区分开来。
