沃夫勒姆综合征：病例报告及文献综述

Wolfram syndrome: case report and review of the literature.

作者信息

Ari Seyhmus, Keklíkçí Uğur, Caça Ihsan, Unlü Kaan, Kayabaşi Hasan

机构信息

Department of Ophthalmology, Diyarbakir State Hospital, Diyarbakir, Turkey.

出版信息

Compr Ther. 2007 Spring;33(1):18-20. doi: 10.1007/s12019-007-0007-z.

DOI:10.1007/s12019-007-0007-z

PMID:17984488

Abstract

Wolfram syndrome (WFS) is a rare diffuse neurodegenerative disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy, deafness, and a wide variety of central nervous system abnormalities. Insulin-dependent diabetes mellitus with optic nerve atrophy is a sufficient criterion for the diagnosis. WFS is a devastating disease for the patients and their families. This study emphasizes the need for careful evaluation of cases having insulin-dependent diabetes mellitus and optic atrophy.

摘要

沃夫勒姆综合征（WFS）是一种罕见的弥漫性神经退行性疾病，其特征为尿崩症、糖尿病、视神经萎缩、耳聋以及多种中枢神经系统异常。胰岛素依赖型糖尿病合并视神经萎缩是诊断的充分标准。WFS对患者及其家庭来说是一种极具破坏性的疾病。本研究强调对患有胰岛素依赖型糖尿病和视神经萎缩的病例进行仔细评估的必要性。