Case of presymptomatic aceruloplasminemia treated with deferasirox
Case of presymptomatic aceruloplasminemia treated with deferasirox
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DOI：
10.1111/hepr.12292
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发表时间：
2014-11-01
影响因子：
4.2
通讯作者：
Harada, Masaru
中科院分区：
文献类型：
--
作者：
Tai, Mayumi;Matsuhashi, Nobuo;Harada, Masaru
铜蓝蛋白血症是一种常染色体隐性遗传疾病，其特征是铁代谢异常。铜蓝蛋白突变导致亚铁氧化酶活性缺失，导致大脑、肝脏和其他器官铁超载。我们报道了一名 35 岁男性，他被诊断患有铜蓝蛋白血症，尽管大脑和肝脏中铁积累，但没有神经系统表现。为了预防与铁毒性相关的神经退行性疾病的发展，进行了铁消耗疗法。铁螯合剂地拉罗司可有效降低血清铁蛋白水平并预防疾病进展。
Aceruloplasminemia is an autosomal recessive disease characterized by an abnormal iron metabolism. The absence of ferroxidase activity caused by mutation of ceruloplasmin leads to iron overload in the brain, liver and other organs. We report a 35-year-old man who was diagnosed with aceruloplasminemia without neurological manifestation despite the accumulation of iron in the brain and liver. To prevent the development of neurodegenerative disorder related to iron toxicity, iron depletion therapy was performed. Iron chelator deferasirox was effective in reducing serum ferritin level and to prevent the progression of the disease.