Abstract
Neonatal diabetes (ND) is a rare disease occurring at a frequency of 1 : 90,000-160,000 children up to 6 months of age. In at least 80%, it is caused by a mutation in one of the genes described thus far.
A transient form that disappears after several weeks of insulin therapy may occur in adolescence. Permanent ND requires long term treatment.
The most common causes of ND are mutations in genes coding the potassium channel of the beta cell (ABCC8 and KCNJ11). This form can be mild with good sensitivity to treatment with sulfonylurea derivatives or severe where diabetes is associated with epilepsy and developmental delay (DEND syndrome).
Early genetic diagnosis is essential for the treatment strategy in children with ND. In infancy and toddler age, type 1 diabetes treatable with insulin only prevails.
The treatment of young children has its own specifications with the need to use diluted insulin in intensive regime or to use insulin pumps. Especially thanks to technology connecting insulin pumps and continuous glucose monitors, it is possible to maintain excellent compensation of diabetes even in very young children.