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• W2117328898 abstract "Objective: Wolfram syndrome (WFS) is a rare and complex genetic disorder referred to as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and deafness). Material & Methods: All insulin dependent diabetic patients presented over a period of 10 years, who had optic atrophy or a positive family history of WFS, were enrolled in the study. Criteria for the diagnosis of WFS were the presence of insulin dependent diabetes mellitus (IDDM) along with optic atrophy unexplained by any other disease and/or some other abnormalities associated with WFS. Findings: WFS has been diagnosed in sixteen patients, 9 males and 7 females aged 5.5 to 22yr (median age of 13.4 yr). Nine patients (more than half) came from consanguineous marriages. The earliest manifestation of WFS was IDDM (at a median age of 5.4yrs). All patients developed non-autoimmune IDDM before the age of 8 years old. Only two cases were ketoacidotic. Common diabetic complications of proliferative retinopathy, glomerulosclerosis and neuropathy were remarkably absent in our patients even with long-lasting diabetes mellitus. Antidiuretic hormone (ADH)-responsive diabetes insipidus was confirmed by water deprivation test in 8 patients (50%). The incidence of diabetes insipidus in our patients was lower compared to other studies. Growth retardation, as short stature and a weight below the 5 th percentile for age and gender, was found in 13 (81%) and 5 (31%) patients respectively. Conclusion: Early diagnosis and proper treatment aimed at relieving the symptoms and preventing the future complications are of paramount value and importance." @default.
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• W2117328898 date "2007-01-01" @default.
• W2117328898 modified "2023-09-28" @default.
• W2117328898 title "Wolfram Syndrome: Endocrinological Features in a Case Series Study and Review of the Literature" @default.
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