Monogenic Diabetes Accounts for 6.3% of Cases Referred to 15 Italian Pediatric Diabetes Centers During 2007 to 2012
| Autor: | 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 |
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| Přispěvatelé: | 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 |
| Rok vydání: | 2017 |
| Předmět: |
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 |
| Zdroj: | The Journal of Clinical Endocrinology & Metabolism. 102:1826-1834 |
| ISSN: | 1945-7197 0021-972X |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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