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.
Humans ; Wolfram Syndrome/therapy* ; Treatment Outcome ; Records

OBJECTIVEWolfram syndrome (WFS) is a rare, autosomal recessive inherited disease characterized by various clinical manifestations. The aim of this study was to investigate clinical characteristics of WFS.

METHODSOne case of WFS was reported. Combined with the clinical data of 8 cases of WFS which had been reported in China between 1994 and 2007, the clinical characteristics of WFS were reviewed.

RESULTSInsulin-dependent diabetes mellitus as the earliest manifestation was found in all of the 9 patients, with a median onset age of 5.0 years. Optic atrophy occurred in 8 patients (onset age: 8.5 years), diabetes insipidus in 7 patients (onset age: 8.5 years) and deafness in 7 patients (onset age: 9.8 years). Short stature was found in 6 patients and hydroureteronephrosis in 4 patients.

CONCLUSIONSInsulin-dependent diabetes mellitus was the first presentation in children with WFS. Optic atrophy, diabetes insipidus and deafness were common complications, with a various onset age.

Child ; Humans ; Male ; Wolfram Syndrome ; complications ; diagnosis ; therapy