Background: Type 1 diabetes (T1D) is the most frequent etiology in Italian diabetic children and adolescents. Data on type 2 (T2D) and monogenic diabetes (MD) prevalence are scanty.
Objective and hypotheses: To estimate the prevalence of T1D, T2D, secondary diabetes, and MD in a pediatric population of Italian diabetic patients.
Method: Data on 3,076 patients (diabetes onset January 2007December 2012, age at diagnosis <18 years) were collected from 13 Italian Tertiary Centers. Genetic testing was performed when required. Diabetes was categorized as T1D, T2D, MD or as syndromes associated with diabetes (if confirmed by genetic testing), and secondary diabetes (i.e. cystic fibrosis).
Results: 2813 patients (51.8% males) were diagnosed with T1D (91.4%), 35 T2D (1.1%), 196 MD 6.4% (180 MODY=5.8%, (2.8% MODY1, 88.3% MODY2, 7.2% MODY3, 1.7% MODY5; neonatal diabetes 0.6%)). Nine cases (0.3%) were diagnosed with other genetic conditions (Wolfram syndrome, mitochondrial diabetes, severe insulin resistance, other), and 23 (0.7%) with secondary diabetes.
Conclusion: Similarly to other countries, T1D is the most frequent diagnosis in Italian diabetic patients <18 years, while a striking disparity, likely due to different lifestyle and genetic background, is observed between the rate of T2D of this study (1.1%, in keeping with European reports of 0.241.4%) and the SEARCH data from US (about 11%). At further variance with other Western countries (e.g. Norwegian registry, the DPV-Wiss study, the SEARCH study), the prevalence of MD in Italy is very high. This could depend on the fact that broader attention is devoted to MD in Italy than in the US, and also on the fact that genetic testing is easily accessible and free of charge. The close follow-up of patients with incidental hyperglycemia likely accounts for the very high rate of GCK/MODY2 mutations, the most frequent MODY type in Italy.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology