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. 2017 Jun 1;102(6):1826-1834.
doi: 10.1210/jc.2016-2490.

Monogenic Diabetes Accounts for 6.3% of Cases Referred to 15 Italian Pediatric Diabetes Centers During 2007 to 2012

Maurizio Delvecchio  1 , Enza Mozzillo  2 , Giuseppina Salzano  3 , Dario Iafusco  4 , Giulio Frontino  5 , Patrizia I Patera  6 , Ivana Rabbone  7 , Valentino Cherubini  8 , Valeria Grasso  9 , Nadia Tinto  10 , Sabrina Giglio  11 , Giovanna Contreas  12 , Rosa Di Paola  13 , Alessandro Salina  14 , Vittoria Cauvin  15 , Stefano Tumini  16 , Giuseppe d'Annunzio  14 , Lorenzo Iughetti  17 , Vilma Mantovani  18 , Giulio Maltoni  19 , Sonia Toni  20 , Marco Marigliano  12 , Fabrizio Barbetti  9   21 ; Diabetes Study Group of the Italian Society of Pediatric Endocrinology and Diabetes (ISPED)
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Monogenic Diabetes Accounts for 6.3% of Cases Referred to 15 Italian Pediatric Diabetes Centers During 2007 to 2012

Maurizio Delvecchio et al. J Clin Endocrinol Metab. .

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.

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