尿崩症、糖尿病、视神经萎缩和耳聋。3例“尿崩症-糖尿病-视神经萎缩-耳聋（DIDMOAD）综合征”。
Diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. 3 cases of 'DIDMOAD' syndrome.
作者信息
Richardson J E, Hamilton W
出版信息
Arch Dis Child. 1977 Oct;52(10):796-8. doi: 10.1136/adc.52.10.796.
Abstract
Three children with diabetes insipidus, diabetes mellitus, optic atrophy, and high-tone deafness were shown to lack vasopressin, indicative of degeneration of the cells of the hypothalamic supraoptic nuclei. The syndrome being due to a single gene defect, inherited as an autosomal recessive, is therefore likely to be the result of an inborn error of metabolism with variable periods of latency in those affected.
摘要
三名患有尿崩症、糖尿病、视神经萎缩和高音调耳聋的儿童被证实缺乏抗利尿激素，这表明下丘脑视上核细胞发生了退化。由于该综合征是由单一基因缺陷引起的，呈常染色体隐性遗传，因此很可能是一种先天性代谢错误，在受影响者中具有不同的潜伏期。
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本文引用的文献
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The association of juvenile diabetes mellitus and optic atrophy: clinical and genetical aspects.青少年糖尿病与视神经萎缩的关联：临床及遗传学方面
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