Abstract
The aetiology and treatment of neonatal diabetes Neonatal diabetes (ND) is a rare disease occurring at a frequency of 1: 90-160,000 in children up to 6 months of age. Transient hyperglycaemia may occur in premature babies.
A combination of long lasting high hyperglycaemia in a child born with intrauterine growth retardation leads to the higher probability of developing diabetes. Neonatal diabetes is at least in 80% caused by the mutation in one of the genes described so far.
Transient form that disappears after several weeks of insulin therapy may recur in adolescence. Permanent neonatal diabetes requires treatment permanently.
The major causes of ND are the mutations in the genes coding the potassium channel of the beta-cell (ABCC8 and KCNJ11). This form of ND can be mild with a good sensitivity to the treatment of sulfonylurea derivatives or severe where the diabetes is associated with epilepsy and developmental delay (DEND syndrome).
Aetiology also includes gene for insulin, glucokinase, or PLAGL1 gene imprinting on chromosome 6q. Rarely, neonatal diabetes can be a part of dysregulation of the immune system (IPEX syndrome, etc.).
Early genetic diagnosis allows targeted treatment of these children.