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

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.

• 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, Diabetes Study Group of the Italian Society of Pediatric Endocrinology and Diabetes (ISPED)
• Journal: The Journal of clinical endocrinology and metabolism (J Clin Endocrinol Metab) Vol. 102 Issue 6 Pg. 1826-1834 (06 01 2017) ISSN: 1945-7197 [Electronic] United States
• PMID: 28323911 (Publication Type: Journal Article)
• Copyright: Copyright © 2017 Endocrine Society

Chemical References

• Autoantibodies
• Germinal Center Kinases
• HNF1A protein, human
• HNF4A protein, human
• Hepatocyte Nuclear Factor 1-alpha
• Hepatocyte Nuclear Factor 4
• Kir6.2 channel
• Potassium Channels, Inwardly Rectifying
• Protein Serine-Threonine Kinases

Topics

• Adolescent
• Autoantibodies (immunology)
• Child
• Child, Preschool
• Diabetes Complications
• Diabetes Mellitus, Type 1 (epidemiology, immunology)
• Diabetes Mellitus, Type 2 (epidemiology, genetics)
• Female
• Germinal Center Kinases
• Hepatocyte Nuclear Factor 1-alpha (genetics)
• Hepatocyte Nuclear Factor 4 (genetics)
• Humans
• Infant
• Infant, Newborn
• Italy (epidemiology)
• Male
• Potassium Channels, Inwardly Rectifying (genetics)
• Prognosis
• Protein Serine-Threonine Kinases (genetics)
• Retrospective Studies