title: Maturity-onset diabetes of the young in children with incidental hyperglycemia: a multicenter Italian study of 172 families.
abstract: OBJECTIVE
  To investigate the prevalence of maturity-onset diabetes of the young (MODY) in Italian children with incidental hyperglycemia.
  
  
  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 1alpha (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.
authors: Department of Pediatrics, IRCCS Gaslini Children's Hospital, University of Genoa, Genoa, Italy. renatalorini@ospedale-gaslini.ge.it
authors: Renata
authors: R
authors: Lorini
authors: Catherine
authors: C
authors: Klersy
authors: Giuseppe
authors: G
authors: d'Annunzio
authors: Ornella
authors: O
authors: Massa
authors: Nicola
authors: N
authors: Minuto
authors: Dario
authors: D
authors: Iafusco
authors: Christine
authors: C
authors: Bellannè-Chantelot
authors: Anna Paola
authors: AP
authors: Frongia
authors: Sonia
authors: S
authors: Toni
authors: Franco
authors: F
authors: Meschi
authors: Franco
authors: F
authors: Cerutti
authors: Fabrizio
authors: F
authors: Barbetti
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003924:Diabetes Mellitus, Type 2 / Q000453:epidemiology* / Q000235:genetics; D005260:Female; D005941:Glucokinase / Q000235:genetics; D051538:Hepatocyte Nuclear Factor 1-alpha / Q000235:genetics; D006801:Humans; D006943:Hyperglycemia / Q000150:complications* / Q000235:genetics; D007223:Infant; D007558:Italy; D008297:Male; D009154:Mutation
chemical_list: D051538:Hepatocyte Nuclear Factor 1-alpha; D005941:Glucokinase