title: Long-term follow-up of diabetes in two patients with thiamine-responsive megaloblastic anemia syndrome.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  The hormonal assessment in our patients (normal insulin response to oral glucose in childhood, preserved C-peptide secretion in case 2) and the good response to an oral hypoglycemic agent would indicate that the pancreatic disease may initiate as type 2 diabetes and may progress after several years to an insulin-requiring diabetes, as indicated by the exhaustion of the insulin secretory capacity.
authors.affiliation: Department of Pediatrics, School of Medicine, University of Udine, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Valerio
authors.forename: A
authors.initials: A
authors.lastname: Franzese
authors.forename: V
authors.initials: V
authors.lastname: Poggi
authors.forename: A
authors.initials: A
authors.lastname: Tenore
mesh_terms: D000293:Adolescent; D000749:Anemia, Megaloblastic / Q000097:blood / Q000150:complications* / Q000188:drug therapy*; D001786:Blood Glucose / Q000378:metabolism; D002675:Child, Preschool; D003638:Deafness; D003922:Diabetes Mellitus, Type 1 / Q000097:blood / Q000150:complications* / Q000188:drug therapy; D005260:Female; D005500:Follow-Up Studies; D005951:Glucose Tolerance Test; D006801:Humans; D007223:Infant; D007328:Insulin / Q000097:blood; D008297:Male; D013577:Syndrome; D013831:Thiamine / Q000031:analogs & derivatives* / Q000627:therapeutic use*; D013997:Time Factors
chemical_list: D001786:Blood Glucose; D007328:Insulin; C038785:benzoyloxymethylthiamine; D013831:Thiamine