Monogenic Diabetes Accounts for 6.3% of Cases Referred to 15 Italian Pediatric Diabetes Centers During 2007 to 2012
Year: 2017
Type: article
Study design: Observational Study
Abstract: 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.
DOI: 10.1210/jc.2016-2490
Authors: Maurizio Delvecchio, Enza Mozzillo, Giuseppina Salzano, Dario Iafusco, Giulio Frontino, Patrizia I. Patera, Ivana Rabbone, Valentino Cherubini, Valeria Grasso, Nadia Tinto, Sabrina Giglio, Giovanna Contreas, Rosa Di Paola, Alessandro Salina, Vittoria Cauvin, Stefano Tumini, Giuseppe d’Annunzio, Lorenzo Iughetti, Vilma Mantovani, Giulio Maltoni, Sonia Toni, Marco Marigliano, Fabrizio Barbetti, for the Diabetes Study Group of the Italian Society of Pediatric Endocrinology and Diabetes (ISPED)
Institutions: Ospedale Pediatrico Giovanni XXIII, Federico II University Hospital, University of Naples Federico II, University of Messina, University of Campania "Luigi Vanvitelli", IRCCS Ospedale San Raffaele, Bambino Gesù Children's Hospital, Ospedale Regina Margherita, University of Turin, Fondazione Ospedale Salesi, University of Rome Tor Vergata, Meyer Children's Hospital, University of Florence, University of Verona, Casa Sollievo della Sofferenza, Istituto Giannina Gaslini, Ospedale Santa Chiara, University of Chieti-Pescara, University of Modena and Reggio Emilia, IRCCS Azienda Ospedliero-Universitaria di Bologna Policlinico di Sant'Orsola, Istituti di Ricovero e Cura a Carattere Scientifico
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: bronze
OpenAlex ID: W2602158796