Advances in diagnosis and treatment of Wolfram syndrome and related molecular mechanism

Zhonghua Yu Fang Yi Xue Za Zhi. 2023 Feb 6;57(2):293-300. doi: 10.3760/cma.j.cn112150-20220209-00114.


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.

PMID:36797591 | DOI:10.3760/cma.j.cn112150-20220209-00114