Three cases of Wolfram syndrome with different clinical aspects

被引:8
|
作者
Camtosun, Emine [2 ]
Siklar, Zeynep [1 ,2 ]
Kocaay, Pinar [2 ]
Ceylaner, Serdar [3 ]
Flanagan, Sarah E. [4 ]
Ellard, Sian [4 ]
Berberoglu, Merih [2 ]
机构
[1] Ankara Univ, Tip Fak Cocuk Endokrinol Bilim Dali, TR-06100 Cebeci Ankara, Turkey
[2] Ankara Univ, Sch Med, Dept Pediat Endocrinol, TR-06100 Ankara, Turkey
[3] Intergen Genet Ctr, Ankara, Turkey
[4] Univ Exeter, Sch Med, Inst Biomed & Clin Sci, Exeter, Devon, England
来源
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM | 2015年 / 28卷 / 3-4期
基金
英国惠康基金;
关键词
clinic; mutation; Wolfram syndrome; DIDMOAD-SYNDROME;
D O I
10.1515/jpem-2014-0139
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Background: Wolfram syndrome is an autosomal recessive disorder caused by mutations in the WFS1 gene. Clinical heterogeneity has been reported both within and between families with WFS1 mutations. Subjects: The first case was diagnosed with insulin-dependent diabetes mellitus with positive for pancreatic autoantibodies and had a ketoacidotic attack in the follow-up period. The second case presented initially with optic atrophy and was diagnosed with behavioral and psychiatric problems at an early age. The third case had early onset insulin-dependent diabetes with multiple anomalies and congenital hypothyroidism. Many of these features have not been reported previously in patients with Wolfram syndrome. In all three patients homozygous mutations in WFS1 were identified. Conclusion: Wolfram syndrome is a disease where the characteristic features may present at different times. A diagnosis of Wolfram syndrome should therefore be considered even in the absence of the full spectrum of clinical features.
引用
收藏
页码:433 / 438
页数:6
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