Maturity-onset diabetes of the young in children with incidental hyperglycemia: A multicenter Italian study of 172 families

Renata Lorini, Catherine Klersy, Giuseppe D'Annunzio, Ornella Massa, Nicola Minuto, Dario Iafusco, Christine Bellanǹe-Chantelot, Anna Paola Frongia, Sonia Toni, Franco Meschi, Franco Cerutti, Fabrizio Barbetti, P. Banin, F. Cadario, L. Calisti, M. Cappa, A. Crinó, V. Cherubini, G. Chiari, M. VanelliM. Cotellessa, E. D'Amato, V. Cauvin, A. Franzese, L. Guazzarotti, L. Iughetti, M. L. Mancabitti, C. Meossi, L. Pinelli, M. Pocecco, A. Scaramuzza, N. Sulli, A. Visentin

Research output: Contribution to journalArticlepeer-review

Abstract

OBJECTIVE - To investigate the prevalence of maturity-onset diabetes of the young (MODY) in Italian children with incidental hyperglycemia. RESEARCH DESIGN AND METHODS - Among 748 subjects age 1-18 years with incidental hyperglycemia, minimal diagnostic criteria for MODY were met by 172 families. Mutational analyses of the glucokinase (GCK) and hepatocyte nuclear factor 1α (HNF1A) genes were performed. RESULTS - We identified 85 GCK gene mutations in 109 probands and 10 HNF1A mutations in 12 probands. In GCK patients, the median neonatal weight and age at the first evaluation were lower than those found in patients with HNF1A mutations. Median fasting plasma glucose and impaired fasting glucose/impaired glucose tolerance frequency after oral glucose tolerance testing were higher in GCK patients, who also showed a lower frequency of diabetes than HNF1A patients. CONCLUSIONS - GCK mutations are the prevailing cause of MODY (63.4%) when the index case is recruited in Italian children with incidental hyperglycemia.

Original languageEnglish
Pages (from-to)1864-1866
Number of pages3
JournalDiabetes Care
Volume32
Issue number10
DOIs
Publication statusPublished - Oct 2009

ASJC Scopus subject areas

  • Internal Medicine
  • Endocrinology, Diabetes and Metabolism
  • Advanced and Specialised Nursing

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