Long-term follow-up of diabetes in two patients with thiamine-responsive megaloblastic anemia syndrome

Diabetes Care
G ValerioA Tenore

Abstract

To describe a 15-year follow-up of diabetes and to present data regarding pancreatic beta-cell function in two adolescents affected by the thiamine-responsive megaloblastic anemia (TRMA) syndrome. The first patient (PMR) is a 17.5-year-old Italian girl who presented megaloblastic anemia at 7.5 months of age. At age 2.5 years, because of the presence of diabetes and sensorineural deafness, she was diagnosed with TRMA syndrome and started treatment with thiamine-HCl, followed very early by benzoyloxymethyl-thiamine (BOM-T). The second patient (PF) is a 16.8-year-old Italian boy born to consanguineous parents. Sensorineural deafness was diagnosed at age 1.5 years, while diabetes with ketoacidosis and megaloblastic anemia were diagnosed at age 3 years. Treatment with thiamine HCl was started immediately after diagnosis and changed to BOM-T 2 months later. Subsequent to the initiation of the vitamin, the two patients did not require insulin for approximately 7 and 10 years, respectively. Puberty was determinant in deteriorating the metabolic control in these patients, leading to treatment with an oral hypoglycemic agent and finally to a reinstitution of insulin therapy. The hormonal assessment in our patients (normal insulin respons...Continue Reading

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