Maturity-Onset Diabetes of the Young (MODY) in Children with Incidental Hyperglycemia. A Multicenter Italian Study on 172 families
- Renata Lorini, MD (renatalorini{at}ospedale-gaslini.ge.it)1,
- 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, MD (mody.2{at}libero.it) (fabrizio.barbetti{at}spr-r.it)3 and
- Study Group of Italian Society of Pediatric Endocrinologyand Diabetology (ISPED)
- 1Department of Pediatrics, IRCCS Gaslini Children's Hospital, University of Genoa, Genova, Italy
- 2Department of Biometry and Clinical Epidemiology Services, IRCCS Policlinico San Matteo, Pavia, Italy
- 3IRCCS Bambino Gesu Pediatric Hospital, Rome, Italy
- 4Department of Pediatrics, 2nd University of Naples, Naples, Italy
- 5Pediatric Division, Brotzu Hospital, Cagliari, Italy, Meyer Pediatric Hospital, Florence, Italy; Department of Pediatrics, Scientific Institute San Raffaele Hospital, Milan, Italy
- 6Department of Pediatrics, University of Turin, Turin, Italy
- 7Department of Genetics, AP-HP Hopital Pitie-Salpetriere, Universite Pierre et Marie Curie, Paris, France
- 8Department of Laboratory Medicine, Tor Vergata University Hospital, Rome, Italy
- 9San Raffaele Biomedical Park Foundation, Rome, Italy
Abstract
Objective: To investigate MODY prevalence in Italian children with incidental hyperglycemia.
Research design and methods: Among 748 subjects with incidental hyperglycemia aged 1-18 years minimal diagnostic criteria for MODY were met by 172 families. Mutational analysis of the glucokinase (GCK) and hepatocyte nuclear factor 1-α (HNF1Α) genes was 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 FPG and IFG/IGT frequency after OGTT were higher in GCK patients, who also showed a lower frequency of diabetes mellitus 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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- Received November 10, 2008.
- Accepted June 13, 2009.
- Copyright © American Diabetes Association
