Aceruloplasminemia with Abnormal Compound Heterozygous Mutations Developed Neurological Dysfunction during Phlebotomy Therapy
Aceruloplasminemia with Abnormal Compound Heterozygous Mutations Developed Neurological Dysfunction during Phlebotomy Therapy
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DOI：
10.2169/internalmedicine.9855-17
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发表时间：
2018-01-01
影响因子：
1.2
通讯作者：
Mokuno, Kenji
中科院分区：
文献类型：
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作者：
Watanabe, Maki;Ohyama, Ken;Mokuno, Kenji
铜蓝蛋白血症是一种由铜蓝蛋白基因突变引起的常染色体隐性遗传性疾病。由于基因突变导致铜蓝蛋白铁氧化酶活性丧失，导致细胞铁转运紊乱。我们在此描述了一名患有铜蓝蛋白血症的患者，该患者患有通过胰岛素注射治疗的糖尿病、通过静脉切开术治疗的肝脏含铁血黄素沉着症以及神经功能障碍。铜蓝蛋白基因的遗传分析显示，外显子 7 中存在 c.1286_1290insTATAC 和外显子 12 中 c.2185delC 的新型复合杂合突变。这种异常复合杂合子具有与其他基因突变的铜蓝蛋白血症患者相似的典型临床特征。
Aceruloplasminemia is an autosomal recessive inherited disorder caused by ceruloplasmin gene mutations. The loss of ferroxidase activity of ceruloplasmin due to gene mutations causes a disturbance in cellular iron transport. We herein describe a patient with aceruloplasminemia, who presented with diabetes mellitus that was treated by insulin injections, liver hemosiderosis treated by phlebotomy therapy, and neurological impairment. A genetic analysis of the ceruloplasmin gene revealed novel compound heterozygous mutations of c.1286_1290insTATAC in exon 7 and c.2185delC in exon 12. This abnormal compound heterozygote had typical clinical features similar to those observed in aceruloplasminemia patients with other gene mutations.