Najjar S S, Saikaly M G, Zaytoun G M, Abdelnoor A
Arch Dis Child. 1985 Sep;60(9):823-8. doi: 10.1136/adc.60.9.823.
Seven patients with a rare syndrome of diabetes insipidus (DI), diabetes mellitus (DM), optic atrophy (OA), neurosensory deafness (D), atony of the urinary tract, and other abnormalities (Wolfram or DIDMOAD syndrome) are reported. Of the seven patients, three siblings were followed up for 10-17 years. All seven patients had diabetes mellitus and optic atrophy; six had diabetes insipidus; and in the four patients investigated there was dilatation of the urinary tract. The severity of diabetes varied, and all required insulin for control of the hyperglycaemia. In one patient the course of the disease simulated maturity onset diabetes of the young; another presented with ketoacidosis; but none had haplotypes usually associated with insulin dependent diabetes mellitus. The diabetes insipidus responded to chlorpropamide, suggesting partial antidiuretic hormone deficiency. Onset of optic atrophy and loss of vision occurred relatively late and progressed slowly, although in one patient there was a rapid deterioration in visual acuity. Deafness was mild, of late onset, and of sensorineural origin. A degenerative process affecting the central and peripheral nervous system can explain all the manifestations of the syndrome except diabetes mellitus. The pathogenesis of the diabetes mellitus remains obscure.
报告了7例患有尿崩症（DI）、糖尿病（DM）、视神经萎缩（OA）、神经性耳聋（D）、尿路无张力及其他异常的罕见综合征（Wolfram或DIDMOAD综合征）患者。在这7例患者中，3例兄弟姐妹接受了10至17年的随访。所有7例患者均患有糖尿病和视神经萎缩；6例患有尿崩症；在接受检查的4例患者中存在尿路扩张。糖尿病的严重程度各不相同，所有患者都需要胰岛素来控制高血糖。1例患者的疾病过程类似青少年成熟期发病的糖尿病；另1例表现为酮症酸中毒；但无一例具有通常与胰岛素依赖型糖尿病相关的单倍型。尿崩症对氯磺丙脲有反应，提示部分抗利尿激素缺乏。视神经萎缩和视力丧失相对较晚出现且进展缓慢，尽管1例患者视力急剧恶化。耳聋程度较轻，起病较晚，为感觉神经性耳聋。影响中枢和周围神经系统的退行性过程可以解释该综合征除糖尿病外的所有表现。糖尿病的发病机制仍不清楚。
