Le syndrome de Wolfram : une maladie « orpheline » que les diabétologues ne peuvent pas ignorer

Wolfram syndrome or DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness) is a rare congenital disease due to autosomic recessive transmission of mutations in WFS1 gene. The disease is characterized by the progressive constitution of a complex syndrome during the three first decades of the life combining juvenile diabetes mellitus, optic atrophy, central diabetes insipidus, sensorineural deafness and multiple neurologic complications (brain, periphery and autonomic system). It causes profound handicaps and shortens life expectancy. Specialists in Diabetology should concern about this disease: they should precociously diagnose the syndrome. They must also coordinate the multidisciplinary care of these complex patients. Finally, the crucial role played by wolframine in the reticulum stress and its adapted response UPR (Unfolded Protein Response) in the pancreatic β-cell suggest that similar mechanisms are involved in the pathogenesis of type 2 diabetes ant its spontaneous worsening attributed to gluco-lipotoxicity.