Wolfram syndrome
Wolfram syndrome
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DOI：
10.1016/j.ijporl.2003.10.012
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发表时间：
2004-02-01
影响因子：
1.5
通讯作者：
Savastano, M
中科院分区：
文献类型：
--
作者：
Megighian, D;Savastano, M
Wolfram综合征是一种罕见的常染色体隐性遗传性畸形性疾病。该病的发病机制尚不清楚。其特征是存在尿崩症、糖尿病、视神经萎缩和耳聋。其他异常，如肾流出道和多种神经系统疾病可能会在以后发展。在我们的病例报告中，糖尿病在4岁时出现;听力损失和肾功能障碍在11岁;视神经萎缩在16岁。没有发现共济失调、尿崩症和神经系统异常的迹象。Wolfram综合征的诊断在疾病的最初阶段并不总是容易的。怀疑可能是由于青少年糖尿病伴视神经萎缩。临床检查结果如视觉诱发电位阳性、视网膜图缓解、排除自身免疫性糖尿病等，可为诊断提供有效线索。其他症状如进行性感觉神经性。听力损失、眼球震颤和尿动力学紊乱以及肾脏并发症的存在使得该综合征的诊断更容易。(C)2003 Etsevier爱尔兰有限公司rights reserved.
The Wolfram syndrome is a rare dysmorphogenetic disease of autosomic recessive hereditary nature. The pathogenesis of the disease is still not well known. It is characterised by the presence of diabetes insipidus, diabetes mellitus, optic atrophy and deafness. Other anomalies, such as renal outflow tracts and multiple neurological disorders may develop later. In our case report the diabetes mellitus appeared at the age of 4; the hearing loss and renal disturbances at the age of 11; the optic atrophy at the age of 16. No signs of ataxia, diabetes insipidus and neurologic anomalies were found. The diagnosis of Wolfram syndrome is not always easy in the first stages of the disease. The suspect may come from the presence of a juvenile diabetes mellitus asssociated with optic atrophy. For the diagnosis a valid clue can be given from the results of some clinical tests such as the positivity of the visual evoked potentials and the retinogram reliefs and the exclusion of the autoimmune origin of the diabetes mellitus. Other signs such as the progressive sensorineural. hearing loss, the presence of nystagmus and of urodynamic disturbances and renal complications makes the diagnosis of this syndrome easier. (C) 2003 Etsevier Ireland Ltd. All. rights reserved.