Maturity-onset diabetes of the young in children with incidental hyperglycemia: a multicenter Italian study of 172 families.
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.
Lorini
Renata
R
Department of Pediatrics, IRCCS Gaslini Children's Hospital, University of Genoa, Genoa, Italy. renatalorini@ospedale-gaslini.ge.it
Klersy
Catherine
C
d'Annunzio
Giuseppe
G
Massa
Ornella
O
Minuto
Nicola
N
Iafusco
Dario
D
Bellannè-Chantelot
Christine
C
Frongia
Anna Paola
AP
Toni
Sonia
S
Meschi
Franco
F
Cerutti
Franco
F
Barbetti
Fabrizio
F
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
D051538:Hepatocyte Nuclear Factor 1-alpha; D005941:Glucokinase