Adiposidad en niños y adolescentes con diabetes tipo 1: situación actual y controversias / Adiposity children and adolescents with type 1 diabetes: update and controversies

Durante años se ha descrito una mayor tendencia al sobrepeso en la población con diabetes tipo 1, tendencia que ya se observa durante la infancia y la pubertad. El tratamiento sustitutivo con insulina subcutánea parece ser uno de los factores implicados. Clarificar estas cuestiones y si este incremento ponderal puede conllevar un aumento en el riesgo cardiovascular de estos pacientes en su etapa adulta es de gran interés, para poder desarrollar estrategias que prevengan o al menos atenúen esta evolución. La siguiente revisión tiene como objetivo realizar una puesta al día sobre la situación antropométrica y la presencia de exceso de grasa en los niños y adolescentes con diabetes tipo 1 respecto a la población sana, así como la importancia de los distintos factores implicados y su potencial efecto sobre el riesgo cardiovascular (AU)

For years now, a stronger tendency towards overweight among diabetes 1 population has been described, a tendency already observed during childhood and pubescence. Insulin replacement therapy to be one of the main underlying factors. Clarifying these issues and determining whether this weight gain may bring in an increased cardiovascular risk in these patients during their adulthood is critical in order to develop strategies that prevent or at least diminish this evolution. This review aims at updating the anthropometric status and the presence of excess body fat in children and adolescents with type 1 diabetes as compared to healthy population, establishing the relevance of the different factors implied and their potential effect on cardiovascular risk (AU)

[Adiposity in children and adolescents with type 1 diabetes: update and controversies]. / Adiposidad en niños y a dolescentes con diabetes tipo 1: situación actual y controversias.

For years now, a stronger tendency towards overweight among diabetes 1 population has been described, a tendency already observed during childhood and pubescence. Insulin replacement therapy to be one of the main underlying factors. Clarifying these issues and determining whether this weight gain may bring in an increased cardiovascular risk in these patients during their adulthood is critical in order to develop strategies that prevent or at least diminish this evolution. This review aims at updating the anthropometric status and the presence of excess body fat in children and adolescents with type 1 diabetes as compared to healthy population, establishing the relevance of the different factors implied and their potential effect on cardiovascular risk.

Durante años se ha descrito una mayor tendencia al sobrepeso en la población con diabetes tipo 1, tendencia que ya se observa durante la infancia y la pubertad. El tratamiento sustitutivo con insulina subcutánea parece ser uno de los factores implicados. Clarificar estas cuestiones y si este incremento ponderal puede conllevar un aumento en el riesgo cardiovascular de estos pacientes en su etapa adulta es de gran interés, para poder desarrollar estrategias que prevengan o al menos atenúen esta evolución. La siguiente revisión tiene como objetivo realizar una puesta al día sobre la situación antropométrica y la presencia de exceso de grasa en los niños y adolescentes con diabetes tipo 1 respecto a la población sana, así como la importancia de los distintos factores implicados y su potencial efecto sobre el riesgo cardiovascular.

Haploinsufficiency at GCK gene is not a frequent event in MODY2 patients.

OBJECTIVE: The aim of this study was to characterize glucokinase (GCK) alterations in maturity-onset diabetes of the young 2 (MODY2)-suspected patients and to investigate their clinical characteristics in relation to the parental origin of the mutation. PATIENTS AND METHODS: We studied a group of 57 unrelated Spanish patients presenting with MODY2 phenotype. Patients without mutation in the coding region of the GCK gene were screened for rearrangements by Multiplex Ligation-dependent Probe Amplification (MLPA). After classification according to the parental origin of the mutation, clinical characteristics were compared between the groups. RESULTS: We detected a point mutation or small deletion or insertion of the GCK gene in 47 patients (82.5%); 19 mutations were novel. In addition, we found a whole-gene deletion by MLPA. Patients carrying a GCK gene defect and those with MODY of unknown genetic origin shows similar phenotypes. Comparison of clinical parameters according to the origin of the mutation did not show any differences in the birth weight (BW) nor in age at diagnosis. Patients who inherited the mutation from the father had higher fasting glucose levels at diagnosis. CONCLUSION: Although the presence of haploinsufficiency of GCK is not a common cause of MODY2, gene dose analysis should be performed when no mutation is found. Strict maternal euglycaemia can contribute to intrauterine growth restriction and low BW when the foetus has inherited the GCK mutation from the mother. As foetal genotype in generally is not known, serial foetal abdominal scans may act as a surrogate for this.