Suppr超能文献

[糖尿病、尿崩症、视神经萎缩和耳聋]

[Diabetes mellitus, diabetes insipidus, optic atrophy and deafness].

作者信息

Labrune B, Benichou J J

机构信息

Département de Pédiatrie, Hôpital de Bicêtre, Le Kremlin-Bicetre.

出版信息

Ann Pediatr (Paris). 1991 Apr;38(4):249-54.

PMID:2069360
Abstract

In France, the combination of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD) is designated as Wolfram syndrome. An analysis of 14 personal cases and previous reports showed that the syndrome develops gradually and specified the most common order of occurrence of the various components as well as the other abnormalities (e.g., of the urinary tract) which may be found. Wolfram syndrome is an inherited condition (recessive autosomal transmission). The lack of association with HLA antigens seems to have been established (in the few cases where HLA typing was performed). The prognosis of Wolfram syndrome is grim, with the occurrence of each additional component adding to the severity of the disease.

摘要

在法国,尿崩症、糖尿病、视神经萎缩和耳聋(DIDMOAD)的组合被称为沃尔弗拉姆综合征。对14例个人病例和既往报告的分析表明,该综合征呈渐进性发展,并明确了各组成部分以及可能发现的其他异常情况(如泌尿系统异常)最常见的出现顺序。沃尔弗拉姆综合征是一种遗传性疾病(常染色体隐性遗传)。(在少数进行了HLA分型的病例中)似乎已证实其与HLA抗原无关。沃尔弗拉姆综合征的预后不佳,每增加一个组成部分都会使病情加重。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验