Monogenic Diabetes Accounts for 6.3% of Cases Referred to 15 Italian Pediatric Diabetes Centers During 2007 to 2012
| العنوان: | Monogenic Diabetes Accounts for 6.3% of Cases Referred to 15 Italian Pediatric Diabetes Centers During 2007 to 2012 |
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| المؤلفون: | Vilma Mantovani, Alessandro Salina, Sabrina Giglio, Maurizio Delvecchio, Stefano Tumini, Lorenzo Iughetti, Sonia Toni, Fabrizio Barbetti, Giulio Frontino, Valeria Grasso, Valentino Cherubini, Enza Mozzillo, Patrizia Ippolita Patera, Rosa Di Paola, Giulio Maltoni, Marco Marigliano, Giovanna Contreas, Ivana Rabbone, Nadia Tinto, Giuseppe d'Annunzio, Vittoria Cauvin, Dario Iafusco, Giuseppina Salzano |
| المساهمون: | Delvecchio, Maurizio, Mozzillo, Enza, Salzano, Giuseppina, Iafusco, Dario, Frontino, Giulio, Patera, Patrizia I, Rabbone, Ivana, Cherubini, Valentino, Grasso, Valeria, Tinto, Nadia, Giglio, Sabrina, Contreas, Giovanna, Di Paola, Rosa, Salina, Alessandro, Cauvin, Vittoria, Tumini, Stefano, D'Annunzio, Giuseppe, Iughetti, Lorenzo, Mantovani, Vilma, Maltoni, Giulio, Toni, Sonia, Marigliano, Marco, Barbetti, Fabrizio |
| المصدر: | The Journal of Clinical Endocrinology & Metabolism. 102:1826-1834 |
| بيانات النشر: | The Endocrine Society, 2017. |
| سنة النشر: | 2017 |
| مصطلحات موضوعية: | Male, Potassium Channels, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Type 2 diabetes, Biochemistry, Germinal Center Kinases, 0302 clinical medicine, Endocrinology, Neonatal diabetes mellitus, Hepatocyte Nuclear Factor 1-alpha, 030212 general & internal medicine, Child, Diabetes, Protein-Serine-Threonine Kinases, Prognosis, Adolescent, Autoantibodies, Child, Preschool, Diabetes Complications, Diabetes Mellitus, Type 1, Diabetes Mellitus, Type 2, Female, Hepatocyte Nuclear Factor 4, Humans, Infant, Infant, Newborn, Italy, Potassium Channels, Inwardly Rectifying, Retrospective Studies, Biochemistry (medical), Inwardly Rectifying, HNF1A, Diabetes, neonatal diabetes, neonatal diabetes, Type 2, Type 1, medicine.medical_specialty, Genetic counseling, 030209 endocrinology & metabolism, Protein Serine-Threonine Kinases, Non autoimmune diabetes, Maturity onset diabetes of the young, 03 medical and health sciences, Internal medicine, Diabetes mellitus, Diabetes Mellitus, medicine, Preschool, Type 1 diabetes, Clical-Diagnosis, Young Mody, Children, Mutations, Adolescentis, Prevalence, Type-2, Hyperglycemia, Complications, Epidemiology, business.industry, Newborn, medicine.disease, Impaired fasting glucose, Settore MED/03 - Genetica Medica, business |
| الوصف: | Context An etiologic diagnosis of diabetes can affect the therapeutic strategy and prognosis of chronic complications. Objective The aim of the present study was to establish the relative percentage of different diabetes subtypes in patients attending Italian pediatric diabetes centers and the influence of an etiologic diagnosis on therapy. Design, setting, and patients This was a retrospective study. The clinical records of 3781 consecutive patients (age, 0 to 18 years) referred to 15 pediatric diabetes clinics with a diagnosis of diabetes or impaired fasting glucose from January 1, 2007 to December 31, 2012 were examined. The clinical characteristics of the patients at their first referral to the centers, type 1 diabetes-related autoantibodies, molecular genetics records, and C-peptide measurements, if requested for the etiologic diagnosis, were acquired. Main outcome measures The primary outcome was to assess the percentage of each diabetes subtype in our sample. Results Type 1 diabetes represented the main cause (92.4%) of diabetes in this group of patients, followed by monogenic diabetes, which accounted for 6.3% of cases [maturity onset diabetes of the young (MODY), 5.5%; neonatal diabetes mellitus, 0.6%, genetic syndromes, 0.2%]. A genetic diagnosis prompted the transfer from insulin to sulphonylureas in 12 patients bearing mutations in the HNF1A or KCNJ11 genes. Type 2 diabetes was diagnosed in 1% of the patients. Conclusions Monogenic diabetes is highly prevalent in patients referred to Italian pediatric diabetes centers. A genetic diagnosis guided the therapeutic decisions, allowed the formulation of a prognosis regarding chronic diabetic complications for a relevant number of patients (i.e.,GCK/MODY), and helped to provide genetic counseling. |
| تدمد: | 1945-7197 0021-972X |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7685536f47b63116edbafb7e2d3c1c68Test https://doi.org/10.1210/jc.2016-2490Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....7685536f47b63116edbafb7e2d3c1c68 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 19457197 0021972X |
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