Maturity-Onset Diabetes of the Young in Children With Incidental Hyperglycemia:
A multicenter Italian study of 172 families
- Renata Lorini, MD1,
- Catherine Klersy, MD2,
- Giuseppe d'Annunzio, MD1,
- Ornella Massa, PHD3,
- Nicola Minuto, MD1,
- Dario Iafusco, MD4,
- Christine Bellannè-Chantelot5,
- Anna Paola Frongia, MD6,
- Sonia Toni, MD7,
- Franco Meschi, MD8,
- Franco Cerutti, MD9,
- Fabrizio Barbetti, MD3,10,11 and
- the Italian Society of Pediatric Endocrinology and Diabetology (ISPED) Study Group*
- 1Department of Pediatrics, IRCCS Gaslini Children's Hospital, University of Genoa, Genoa, Italy;
- 2Biometry and Clinical Epidemiology Service, IRCCS Fondazione Policlinico San Matteo, Pavia, Italy;
- 3IRCCS Bambino Gesù Pediatric Hospital, Rome, Italy;
- 4Department of Pediatrics, Second University of Naples, Naples, Italy;
- 5Department of Genetics, AP-HP Hopital Pitié-Salpétrière, Univesité Pierre et Marie Curie, Paris, France;
- 6Pediatric Division, Brotzu Hospital, Cagliari, Italy;
- 7Meyer Pediatric Institute, Florence, Italy;
- 8Department of Pediatrics, Scientific Institute, San Raffaele Hospital, Milan, Italy;
- 9Department of Pediatrics, University of Turin, Turin, Italy;
- 10Department of Laboratory Medicine, Tor Vergata University Hospital, University of Tor Vergata, Rome, Italy;
- 11San Raffaele Biomedical Park Foundation, Rome, Italy.
- Corresponding authors: Renata Lorini, renatalorini{at}ospedale-gaslini.ge.it, and Fabrizio Barbetti, mody.2{at}libero.it.
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C.K. and G. d'A. contributed equally to this study.
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 (HNF1Α) genes were performed.
RESULTS We identified 85 GCK gene mutations in 109 probands and 10 HNF1Α 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.
Footnotes
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↵*A complete list of the members of the Italian Society of Pediatric Endocrinology and Diabetology (ISPED) Study Group can be found in the acknowledgments.
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The costs of publication of this article were defrayed in part by the payment of page charges. This article must therefore be hereby marked “advertisement” in accordance with 18 U.S.C. Section 1734 solely to indicate this fact.
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- Received November 10, 2008.
- Accepted June 13, 2009.
- © 2009 by the American Diabetes Association.
