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• W1972673670 abstract "Wolfram syndrome is the association of juvenile-onset diabetes mellitus and optic atrophy, also known as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness) (1,2). It is a rare autosomal, recessively inherited, neurodegenerative syndrome caused by mainly inactivating mutations in the WFS1 gene. The WFS1 gene is located at chromosome 4p16 and encodes wolframin, a transmembrane protein, the role of which is still under evaluation. Usually, patients with Wolfram syndrome present with insulin-dependent diabetes mellitus followed by optic atrophy in the first decade, cranial diabetes insipidus and sensorineural deafness in the second decade, dilated renal outflow tracts early in the third decade, and multiple neurologic abnormalities early in the fourth decade. Death occurs prematurely, often from respiratory failure associated with brainstem atrophy. A 32-year-old woman with Wolfram syndrome came to our observation because of frequent severe hypoglycemic episodes and hypoglycemia unawareness. Diabetes was diagnosed at the age of 3 years and atrophy of the optic nerve was observed at the age of 7 years, followed by progressive loss of vision, with blindness occurring at the age of 22 years. At the age of 30 years, diabetes insipidus was recognized, and 2 years later urinary tract dilatation and bladder dysfunction, in the form of a large, atonic bladder, occurred, which required repeated daily bladder catheterizations. On clinical and laboratory examinations, the following findings were registered: body mass index, 22.0 kg/m2; glycated hemoglobin, 9.0%; fasting and stimulated C-peptide levels, undetectable; and search for anti-glutamic acid decarboxylase and anti-IA2 autoantibodies, negative. Insulin treatment consisted of multiple injections (four shots per day), for a total insulin dose of 32 IU. Despite careful management of diet, exercise, and insulin doses, the frequency and severity of hypoglycemic episodes did not improve. The patient refused to receive continuous subcutaneous insulin infusion therapy and agreed to be evaluated from the perspective of solitary pancreas transplantation. Blood group was O, Rh-positive, and human leukocyte antigen pattern was A 1 32, B 35 57, DR 4 11. No contraindications emerged during the following, tight examinations, and therefore the patient was considered suitable for solitary pancreas transplantation. A few weeks later, pancreas grafting was performed (donor’s human leukocyte antigen: A 2 26, B 44 51, DR 11 17) according to the technique of portal-enteric drainage (3). For prevention of rejection, induction therapy consisted of 20 mg basiliximab on the day of transplant and 4 days later, and maintenance therapy was based on tacrolimus (given at doses to achieve blood through levels of 10–15 ng/mL during the first month posttransplant and 8–12 ng/mL thereafter), mycophenolate mofetil (2 g/day), and steroids (500 mg on the day of transplant, followed by tapering to 4 mg/day after 3 months) (4). Insulin independence was promptly achieved. Averaged plasma glucose concentration during the 3-week posttransplantation hospital staying was 117±13 mg/dL. Fasting plasma insulin and C-peptide levels increased to 11.3 μU/mL and 1.33 ng/mL, respectively. Anti-glutamic acid decarboxylase and anti-IA2 autoantibodies remained negative. No episode of biochemical or clinical hypoglycemia occurred after transplantation. Follow-up has now reached 6 months, and the course of the main metabolic parameters is reported in Table 1. To date, there is no demonstration that solitary pancreas transplantation may affect the neurodegenerative progression of Wolfram syndrome. Nevertheless, this case report suggests that the procedure can be considered a useful therapeutic option for improving quality of life in patients affected by this syndrome.Table 1: Main metabolic parameters before and after solitary pancreas transplantationAlberto Coppelli Rosa Giannarelli Francesca Palumbo Stefano Del Prato Piero Marchetti Fabio Vistoli Franco Mosca Ugo Boggi" @default.
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• W1972673670 date "2003-11-27" @default.
• W1972673670 modified "2023-09-29" @default.
• W1972673670 title "Solitary pancreas transplantation in wolfram syndrome1." @default.
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• W1972673670 doi "https://doi.org/10.1097/01.tp.0000084201.93783.db" @default.
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