Advances in diagnosis and treatment of Wolfram syndrome and related molecular mechanism.
10.3760/cma.j.cn112150-20220209-00114
- VernacularTitle:Wolfram综合征的诊疗及相关分子机制的研究进展
- Author:
Jing Yu MA
1
;
Zhi Ming LU
1
;
Xiao Hui BAI
1
Author Information
1. Department of Laboratory Medicine, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan 250021, China.
- Publication Type:Journal Article
- MeSH:
Humans;
Wolfram Syndrome/therapy*;
Treatment Outcome;
Records
- From:
Chinese Journal of Preventive Medicine
2023;57(2):293-300
- CountryChina
- Language:Chinese
-
Abstract:
Wolfram syndrome is a rare genetic spectrum disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness, accompanied by other variable clinical manifestations. At present, the prognosis of this syndrome is very poor, the specific molecular mechanism is not clear, effective treatments are lacking to delay, prevent or reverse the development of Wolfram syndrome, and many patients die prematurely due to severe neurological dysfunction. This increases the urgency of the research on the pathogenic molecular mechanism related to Wolfram syndrome and the development of new therapies. This article summarizes the research progress on the pathogenic molecular mechanism and treatment status of Wolfram syndrome, in order to provide reference for the further mechanism research, prevention and treatment of Wolfram syndrome.
