hrp0084p3-629 | Autoimmune | ESPE2015

Early-onset Type 1 Diabetes and Multiorgan Autoimmunity in a Girl with Partial Monosomy 2q and Trisomy 10p

Bizzarri Carla , Matteoli Maria Cristina , Patera Ippolita Patrizia , Cappa Marco

Background: Genes in the HLA region confer about 50% of the genetic risk of type 1 diabetes (T1DM). More than 40 different genes give a minor contribution to T1DM risk, some of them are related to the immune function.Case presentation: A girl was referred at the age of 9 months with severe ketoacidosis in T1DM at onset. Anti-insulin autoantibodies were positive. She was the only daughter of unrelated Caucasian parents, born at term by vaginal delivery. T...

hrp0082p3-d2-737 | Diabetes (3) | ESPE2014

IGF1 Levels in Children with Type 1 Diabetes are Primarily Related to Glycemic Control and Residual β Cell Mass, and not Affected by Different Modalities of Insulin Therapy

Bizzarri Carla , Benevento Danila , Patera Ippolita Patrizia , Marini Romana , Bongiovanni Marzia , Anziano Marco , Cappa Marco

Background: Impaired linear growth and low IGF1 levels, strictly related to poor glycemic control have been reported in children with type 1 diabetes (T1DM).Objective and hypotheses: We studied growth and growth factors in 91 T1DM young patients, 54 males (age: 11.73±3 years, disease duration: 5.2±2.9 years). All subjects were on intensive insulin therapy: 72 children by multiple injection therapy (MI), 19 children by continuous subcutaneous in...

hrp0082p2-d3-346 | Diabetes (2) | ESPE2014

Two Cases of ‘Unknown’ Lipoprotein Lipase Deficiency and Diabetes Mellitus

Bizzarri Carla , Ciccone Sara , Pedicelli Stefania , Benevento Danila , Baldari Francesca , Patera Ippolita Patrizia , Matteoli Maria Cristina , Cappa Marco

Background: Lipoprotein lipase (LPL) deficiency is an autosomal recessive disease with deficient extrahepatic removal of blood lipoproteins.Objective and hypotheses: Primary LPL deficiency can be exacerbated by coexistent conditions such as diabetes, where relative or absolute insulin deficiency leads to an additional secondary LPL deficiency.Method: We describe two cases in which primary LPL deficiency overlapped with previously d...