Central diabetes insipidus and hypothalamic hypothyroidism associated with aceruloplasminemia.
Central diabetes insipidus and hypothalamic hypothyroidism associated with aceruloplasminemia.
复制标题
中枢性尿崩症和下丘脑甲状腺功能减退症与铜蓝蛋白血症相关。
DOI：
10.2169/internalmedicine.49.3508
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发表时间：
2010
影响因子：
1.2
通讯作者：
A. Okumura
中科院分区：
文献类型：
--
作者：
Minemori Watanabe;Chikako Asai;Kota Ishikawa;Atsushi Kiyota;T. Terada;S. Kono;H. Miyajima;A. Okumura
血浆无铜蓝蛋白血症是一种罕见的常染色体隐性遗传疾病，由Miyajima等人（Neurology 37：761-767，1987）首次报道;其临床特征为糖尿病、视网膜变性和神经异常，如小脑共济失调、锥体外系体征和痴呆。无铜蓝蛋白血症是由铜蓝蛋白基因突变引起的，其导致血清铜蓝蛋白缺乏和脑、肝、胰腺和其他器官组织中的铁过载。然而，很少有人知道内分泌疾病相关的浆细胞蛋白血症。我们在此报告一个伴有中枢性尿崩症和下丘脑性甲状腺功能减退症的浆细胞球蛋白血症的病例。
Aceruloplasminemia is a rare autosomal recessive disease first reported by Miyajima et al. (Neurology 37: 761-767, 1987); it is clinically characterized by diabetes mellitus, retinal degeneration and neurological abnormalities, such as cerebellar ataxia, extrapyramidal signs and dementia. Aceruloplasminemia is caused by mutations in the ceruloplasmin gene, which results in the absence of serum ceruloplasmin and iron overload in the brain, liver, pancreas and other organ tissues. However, little is known about endocrine diseases associated with aceruloplasminemia. We report herein a case of aceruloplasminemia accompanied by central diabetes insipidus and hypothalamic hypothyroidism.
DOI：
10.1073/pnas.92.7.2539
发表时间：
1995-03-28
影响因子：
11.1
作者：
HARRIS, ZL;TAKAHASHI, Y;GITLIN, JD
通讯作者：
GITLIN, JD
铜蓝蛋白基因无义突变导致糖尿病和神经退行性疾病的特征。
影响因子：
3.5
作者：
Takahashi,Y;Miyajima,H;Shirabe,S;Nagataki,S;Suenaga,A;Gitlin,JD
通讯作者：
Gitlin,JD