title: The coexistence of type 1 diabetes, MODY2 and metabolic syndrome in a young girl.
abstract: Even though autoantibodies to pancreatic islet cells are normally found in type 1 diabetes and insulin-resistance due to overweight is more reminiscent of type 2 diabetes, some studies have described β-cell antibodies also in maturity-onset diabetes of the young (MODY) and in type 2 diabetes. A 7-year-old girl was referred to our Unit for incidental hyperglycemia and family history of MODY2 and type 2 diabetes. Genetic evaluation confirmed mutation L134P in exon 4 of the glucokinase gene and a high HLA-risk of type 1 diabetes. During follow-up, she developed type 1 diabetes and overweight-induced metabolic syndrome. The coexistence of MODY, type 1 diabetes and overweight-induced metabolic syndrome confirms that diabetes subtype probably represents a continuum of immune and metabolic dysfunction modified by genetic factors.
authors.affiliation: Department of Pediatrics, University of Pavia, Italy. v.calcaterra@smatteo.pv.it
authors.forename: Valeria
authors.initials: V
authors.lastname: Calcaterra
authors.forename: Miryam
authors.initials: M
authors.lastname: Martinetti
authors.forename: Alessandro
authors.initials: A
authors.lastname: Salina
authors.forename: Concetta
authors.initials: C
authors.lastname: Aloi
authors.forename: Daniela
authors.initials: D
authors.lastname: Larizza
mesh_terms: D002648:Child; D003922:Diabetes Mellitus, Type 1 / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D003924:Diabetes Mellitus, Type 2 / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D005260:Female; D005941:Glucokinase / Q000235:genetics / Q000378:metabolism; D015234:HLA-A Antigens / Q000235:genetics; D006801:Humans; D009154:Mutation
chemical_list: D015234:HLA-A Antigens; D005941:Glucokinase