Wolfram综合征的临床表现、影像学特征、诊断及治疗  

Wolfram Syndrome: Clinical Presentations, Imaging Feature, Diagnosis and Treatment

作　　者：杜卫[1] 刘辉[1] 

机构地区：[1]中国人民解放军第210医院神经内科,116021

出　　处：《中国临床神经科学》2018年第1期104-107,共4页Chinese Journal of Clinical Neurosciences

摘　　要：Wolfram综合征是一种少见的常染色体隐性遗传的神经变性疾病,主要表现为糖尿病、尿崩症、视神经萎缩、耳聋,又被称为DIDMOAD综合征。泌尿道异常、神经系统变性常出现在疾病的后期,也是导致成年期患者死亡的原因之一。WFS1基因突变是引起Wolfram综合征的主要原因。目前还没有有效的治疗手段延缓疾病发展,但临床监测及护理可以改善生活质量。Wolfram综合征预后不良,大多数患者死于严重的神经系统功能障碍。文中对Wolfram综合征的临床表现及神经影像学特性,诊断及新治疗进行综述。Wolfram syndrome（WFS） is a rare autosomal recessive inheritance neurodegenerative disorder also known as DIDMOAD（diabetes insipidus, diabetes melllitus, optic atrophy, and deafness）. The urinary tract abnormalities and neurological features usually appear at later stages of the disease, ultimately leading to death in middle adulthood. Mutations of WFS1 gene lead to Wolfram syndrome. There are currently no effective treatments can delay disease progression. The use of careful clinical monitoring and supportive nursing care can improve their quality of life. The prognosis is currently poor, and many patients die prematurely with severe neurological disabilities. Clinical presentations, imaging feature, diagnosis and new treatments for Wolfram syndrome were reviewed.

关 键 词：WOLFRAM综合征 常染色体隐性遗传 神经变性疾病 

分 类 号：R742[医药卫生—神经病学与精神病学] R743[医药卫生—临床医学]