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.
Wolfram综合征是一种罕见的遗传谱系疾病，以尿崩症、糖尿病、视神经萎缩和耳聋为特征，并伴有其他可变的临床表现。目前，这种综合征的预后很差，具体的分子机制尚不明确，缺乏有效的治疗方法来延缓、阻止或逆转Wolfram综合征的发展，许多患者常因严重的神经功能障碍而过早死亡。这增加了Wolfram综合征致病分子机制研究和新疗法开发的紧迫性。本文分析归纳了Wolfram综合征致病分子机制的研究进展和治疗现状，以期为Wolfram综合征的进一步机制研究、预防控制和治疗提供借鉴。.