尿崩症、糖尿病、视神经萎缩及迷路性耳聋：DIDMOAD综合征（作者译）
[Diabetes insipidus, diabetes mellitus, optic atrophy and labyrinthine deafness: the DIDMOAD-syndrome (author's transl)].
作者信息
Ijaiya K, Roth B, Gladtke E, Puyn U
出版信息
Klin Padiatr. 1979 Nov;191(6):572-7.
PMID:574589
Abstract
The DIDMOAD syndrome is a combination of diabetes mellitus, diabetes insipidus, optic atrophy and labyrinthine deafness. The inheritance is autosomalrecessive. Diagnostic and therapeutic possibilities are discussed on the basis of a further case of this pathogenetically not yet clarified disease pattern. Early detection of this syndrome in juvenile diabetics is important for long-term prognosis and genetic family advice.
摘要
糖尿病、尿崩症、视神经萎缩及神经性耳聋综合征（DIDMOAD综合征）是糖尿病、尿崩症、视神经萎缩和迷路性耳聋的组合。其遗传方式为常染色体隐性遗传。基于这一发病机制尚未明确的疾病模式的另一病例，对其诊断和治疗可能性进行了讨论。对于青少年糖尿病患者而言，早期发现该综合征对于长期预后及遗传家族咨询具有重要意义。
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