Watanabe Minemori, Asai Chikako, Ishikawa Kota, Kiyota Atsushi, Terada Tatsuhiro, Kono Satoshi, Miyajima Hiroaki, Okumura Ataru
Department of Endocrinology, Okazaki City Hospital, Okazaki.
Intern Med. 2010;49(15):1581-5. doi: 10.2169/internalmedicine.49.3508. Epub 2010 Aug 2.
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.
无铜蓝蛋白血症是一种罕见的常染色体隐性疾病，最早由宫岛等人报道（《神经病学》37: 761 - 767, 1987）；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。无铜蓝蛋白血症由铜蓝蛋白基因突变引起，这会导致血清铜蓝蛋白缺乏以及大脑、肝脏、胰腺和其他器官组织中铁过载。然而，关于与无铜蓝蛋白血症相关的内分泌疾病知之甚少。我们在此报告一例伴有中枢性尿崩症和下丘脑性甲状腺功能减退的无铜蓝蛋白血症病例。
