Presentation and clinical course of Wolfram (DIDMOAD) syndrome from North India
Presentation and clinical course of Wolfram (DIDMOAD) syndrome from North India
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DOI：
10.1111/j.1464-5491.2011.03377.x
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发表时间：
2011-11-01
影响因子：
3.5
通讯作者：
Tufail, S.
中科院分区：
文献类型：
--
作者：
Ganie, M. A.;Laway, B. A.;Tufail, S.
Wolfram综合征，也被称为DDMOAD，是一种相对罕见的遗传性神经退行性疾病，首先在儿童时期表现为青少年发病的糖尿病和视神经萎缩，其次是尿崩症和耳聋。本研究的目的是检查在印度北部的一家三级医院就诊的DIDMOAD综合征患者的临床特征。方法使用一份标准化表格研究符合Wolfram综合征诊断的青少年发病糖尿病的临床表现。在印度北部的一个三级护理中心的糖尿病诊所就诊的自身免疫性糖尿病患者被跟踪了10年，在7个个体中证实了完全发展的Wolfram综合征的诊断。该系列包括5名男性和2名女性患者，平均年龄为17.5 ± 7.34岁。2例受试者有血缘关系，无任何其他家庭成员受影响。所有受试者均存在视神经萎缩，4/7例感音神经性听力损失，4/7例中枢性尿崩症和2/7例肾源性尿崩症。新发现的相关性包括：痉挛性肌阵挛、身材矮小伴胰腺吸收不良、肾源性尿崩症、紫绀性心脏病和胆总管结石伴胆管炎。遗传分析显示突变的WFS 1基因的外显子8在所有的情况下studyed.Conclusions目前的临床系列Wolfram综合征揭示了不同的临床表现的综合征和一些新的协会。
Aims Wolfram syndrome, also known as DIDMOAD, is a relatively rare inherited neurodegenerative disorder, first evident in childhood as an association of juvenile-onset diabetes mellitus and optic atrophy, followed by diabetes insipidus and deafness. The aim of the study was to examine the clinical profile of patients with DIDMOAD syndrome presenting to a tertiary care hospital in north India.Methods Clinical presentation of juvenile-onset diabetes mellitus fulfilling the diagnosis of Wolfram syndrome was studied using a prepared standardized form.Results Subjects with juvenile-onset non-autoimmune diabetes mellitus attending the diabetic clinic at a tertiary care centre in north India were followed for 10 years and a diagnosis of fully developed Wolfram syndrome was confirmed in seven individuals. The series consisted of five male and two female patients with a mean age of 17.5 +/- 7.34 years. Two subjects had consanguinity and none had any other family member affected. Optic atrophy was present in all, sensorineural hearing loss in 4/7, central diabetes insipidus in 4/7 and nephrogenic diabetes insipidus in 2/7 subjects. The new associations found were: spastic myoclonus, short stature with pancreatic malabsorption, nephrogenic diabetes insipidus, cyanotic heart disease and choledocholithiasis with cholangitis. Genetic analysis revealed mutation in exon 8 of the WFS1 gene in all the cases studied.Conclusions The present clinical series of Wolfram syndrome reveals a varied clinical presentation of the syndrome and some new associations.