title: Wolfram's syndrome: a clinical, diagnostic, and interpretative contribution.
abstract: Four cases (belonging to two different families) of Wolfram's syndrome (WS), a rare congenital disease characterized in its complete form by insulin-dependent diabetes mellitus, optic atrophy, diabetes insipidus, deafness, and dilation of the urinary tracts are presented, and a review of the literature is included. Three of four patients are characterized by HLA-DR2 haplotype, which is rare in IDDM. The neurodegenerative nature of some symptoms and the possible pathogenesis of diabetes mellitus connected with it are discussed.
mesh_terms: D003922:Diabetes Mellitus, Type 1 / Q000150:complications / Q000235:genetics; D005260:Female; D006684:HLA-DR Antigens / Q000032:analysis; D015802:HLA-DR2 Antigen; D006239:Haplotypes; D006801:Humans; D008297:Male; D010375:Pedigree; D014929:Wolfram Syndrome / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*
chemical_list: D006684:HLA-DR Antigens; D015802:HLA-DR2 Antigen