Endocrine and metabolic aspects of the Wolfram syndrome

被引：23
作者：
Boutzios, Georgios [1 ]
Livadas, Sarantis [1 ]
Marinakis, Evangelos [1 ]
Opie, Nicole [1 ]
Economou, Frangiskos [1 ]
Diamanti-Kandarakis, Evanthia [1 ]
机构：
[1] Univ Athens, Sch Med, Sotiria Hosp Athens, Dept Med 3, GR-11527 Athens, Greece
来源：
ENDOCRINE | 2011年 / 40卷 / 01期
关键词：
Diabetes mellitus; Diabetes insipidus; Amenorrhea; WFS1; GENE; OPTIC ATROPHY; DIABETES-INSIPIDUS; PSYCHIATRIC-ILLNESS; AFFECTIVE-DISORDER; BIPOLAR DISORDER; DEAFNESS DIDMOAD; NO ASSOCIATION; MUTATIONS; MELLITUS;
D O I：
10.1007/s12020-011-9505-y
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Wolfram syndrome (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness), is a neurodegenerative disease with autosomal recessive inheritance with incomplete penetrance. DIDMOAD is a very rare disease with an estimated prevalence of 1 in 770,000 and it is believed to occur in 1 of 150 patients with juvenile-onset insulin-dependent diabetes mellitus. Additionally, WS may also present with different endocrine and metabolic abnormalities such as anterior and posterior pituitary gland dysfunction. This mini-review summarizes the variable presentation of WS and the need of screening for other metabolic and hormonal abnormalities, coexisting in this rare syndrome.
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收藏
页码：10 / 13
页数：4
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