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2. Prediabetes in Italian children and youngsters

Author

Brufani, C, Fintini, D, Ciampalini, P, Nocerino, V, Crea, F, Giannone, G, Patera, P, Valerio, G, Cappa, M, and Barbetti, F

Subjects
Settore MED/13 - Endocrinologia
Published
2011

3. Prediabetes in Italian obese children and youngsters

Author

Brufani, C, Fintini, D, Ciampalini, P, Nocerino, V, Crea, F, Giannone, G, Patera, Pi, Valerio, Giuliana, Cappa, M, and Barbetti, F.

Subjects
obesity, endocrine system diseases, insulin resistance, Pre-diabetes, Type 2 diabetes, nutritional and metabolic diseases, hormones, hormone substitutes, and hormone antagonists
Published
2011

4. Permanent diabetes during the first year of life: multiple gene screening in 54 patients

Author

Russo, L, Iafusco, D, Brescianini, S, Nocerino, V, Bizzarri, C, Toni, S, Cerutti, F, Monciotti, C, Pesavento, R, Iughetti, L, Bernanrdini, L, Bonfanti, R, Gargantini, L, Vanelli, M, AGUILAR BRYAN, L, Stazi, Ma, Grasso, V, Colombo, C, Barbetti, F, the EARLY DIABETES STUDY GROUP LERA, R, Cherubini, V, Fifi, Ar, Torelli, C, Frezza, E, Cavallo, L, Zucchini, S, Pasquino, B, Kaufmann, P, Frongia, P, Zedda, N, Ripoli, C, LA LOGGIA, A, LO PRESTI, D, Pocecco, M, Chiarelli, F, Tumini, S, DEL DONNO, M, DE MARCO MR, Lenzi, L, Lorini, R, D'Annunzio, G, Lombardo, F, Meschi, F, Franzese, A, Buono, P, Prisco, F, Cadario, F, Cardella, F, Calcaterra, V, DE GIORGI, G, Federico, Giovanni, Cappa, M, Sulli, N, MANCA BITTI ML, Delvecchio, M, Cotellessa, M, Rabbone, I, Cauvin, V, Bellizzi, M, Tonini, G, Salvatoni, A, and Pinelli, L.

Published
2011

5. Insulin gene mutations are found in children with diabetes and negative to T1D autoantibodies

Author

Bonfanti, R., Colombo, C., Nocerino, V., Geng, X., Drain, P., Massa, O., Viscard, M., Iafusco, D., Chiumello, G., Meschi, F., Fabrizio Barbetti, Bonfanti, R, Colombo, C, Nocerino, V, Geng, X, Drain, P, Massa, O, Viscardi, M, Iafusco, Dario, Chiumello, G, Meschi, F, and Barbetti, F.

Abstract

Results: Heterozygous mutations of insulin (INS) gene are found in patients with neonatal/infancy-onset diabetes. We have evidence that INS gene mutations cause permanent diabetes by endoplasmic reticulum stress-induced apoptosis of the beta cells. Probands of the Italian series who carry insulin mutations show diabetes in isolation with onset between 1 to 6 months from birth. However, 2 affected parents of familial cases bearing the R65C (or R89C) mutation presented with diabetes at 1 and 4 years of age, respectively. We screened the INS gene in 4 patients with diabetes onset above 1 year of age, who were negative to the search of ICA, GAD, IA-A2, IAA and zinc transporter 8 (ZnT8) autoantibodies. We detected 2 INS gene mutations: the already described GB8S (or G32S) and the novel ASignal23S. The GB8S mutant had diabetes onset at 2 years, 10 months of age with detectable C peptide at outset (0.49 ng/ml), and after 2 years (0.34 ng/ml); presently, his insulin dose is 0.5 U Kg-1 d-1. The individual with the ASignal23S mutation presented with typical symptoms of diabetes (polyuria, polydipsia) when he was 6 years 8 months old (HBA1c= 11%). Insulin was started and continued for 6 months; during the following 2 years the patient went off/on insulin several times. Currently, he is on insulin at the dose of 0.2 U Kg-1 d-1. C-peptide measured 11 and 24 months after onset of hyperglycemia was 1.32 and 0.7 ng/ml, respectively. We conclude that: 1) INS gene mutations can be found in children previuosly classified as T1D; 2) the clinical presentation of diabetes in these patients, who do not show any associated feature, is indistinguishable from common T1D diabetes.

6. Mutations inIAPPandNEUROG3genes are not a common cause of permanent neonatal/infancy/childhood-onset diabetes

Author

Riccardo Bonfanti, Fabrizio Barbetti, C. Colombo, Dario Iafusco, Valentina Nocerino, Nocerino, V, Colombo, C, Bonfanti, R, Iafusco, D, Barbetti, F, Iafusco, Dario, and Barbetti, F.

Subjects
Amyloid, Pediatrics, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Nerve Tissue Proteins, Endocrinology, Text mining, Diabetes mellitus, Basic Helix-Loop-Helix Transcription Factors, Internal Medicine, Humans, Immunologic Factors, Medicine, Child, Gene, Autoantibodies, business.industry, Infant, Newborn, Infant, medicine.disease, Islet Amyloid Polypeptide, Diabetes Mellitus, Type 1, Common cause and special cause, Child, Preschool, Mutation, business
Published
2009

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