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 lot (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, R., Klersy, C., D'Annunzio, G., Massa, O., Minuto, N., Iafusco, D., et al. (2009). Maturity-onset diabetes of the young in children with incidental hyperglycemia: a multicenter Italian study of 172 families. DIABETES CARE, 32(10), 1864-1866 [10.2337/dc08-2018].

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

Barbetti, F;
2009-01-01

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 lot (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.
2009
Pubblicato
Rilevanza internazionale
Articolo
Esperti anonimi
Settore MED/13 - ENDOCRINOLOGIA
Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA
English
Con Impact Factor ISI
Humans; Glucokinase; Child; Italy; Child, Preschool; Infant; Hyperglycemia; Diabetes Mellitus, Type 2; Hepatocyte Nuclear Factor 1-alpha; Adolescent; Mutation; Female; Male
Lorini, R., Klersy, C., D'Annunzio, G., Massa, O., Minuto, N., Iafusco, D., et al. (2009). Maturity-onset diabetes of the young in children with incidental hyperglycemia: a multicenter Italian study of 172 families. DIABETES CARE, 32(10), 1864-1866 [10.2337/dc08-2018].
Lorini, R; Klersy, C; D'Annunzio, G; Massa, O; Minuto, N; Iafusco, D; Bellanne-Chantelot, C; Frongia, A; Toni, S; Meschi, F; Cerutti, F; Barbetti, F; Manca Bitti, M; Italian Society of Pediatric Endocrinology and Diabetology (ISPED) Study, G
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/44770
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