Advances in diagnosis and treatment of Wolfram syndrome and related molecular mechanism / 中华预防医学杂志

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.

Sindrome de Wolfram / Wolfram's syndrome

K.W. es un hombre blanco de 18 anos que desarrollo diabetes mellitus a la edad de 7 anos requiriendo insulina desde entonces. Posteriormente desarrollo disminucion progresiva de la vision, sordera sensorial leve y vejiga neurogenica que requirio cateterizacion diaria. La evaluacion sicologicva revelo moderado retardo mental; la aparicion de la pubertad fue tardia. Esta constelacion de manifestaciones clinicas es caracteristica del sindrome de Wolfram, el cual, debido a la multitud de sistemas comprometidos, debe alterar al clinico para buscar manifestaciones menos obvias que son importantes desde el punto de vista pronostico.