This protocol addresses neonatal diabetes arising from activating mutations in the KCNJ11 or ABCC8 genes, which encode subunits of the KATP channel. These mutations prevent channel closure, thereby reducing insulin secretion in response to hyperglycaemia and resulting in diabetes. Presentation is characteristically before 6 months of age.
KATP-channel neonatal diabetes is the most common cause of permanent neonatal diabetes mellitus and the second most common cause of transient neonatal diabetes mellitus.
An oral sulphonylurea-based strategy is the established direction for this genetic subtype, and approximately 90% of affected children can transition from insulin to an oral agent. Full dosing, sequencing, and individualisation are detailed in the complete structured protocol.
DOI: 10.1111/pedi.13426
Treatment with SU, especially glibenclamide (also known as glyburide), is recommended for NDM due to KCNJ11 and ABCC8 abnormalities.
KATP-NDM is the commonest cause of PNDM and the second most common cause of TNDM.
Activating mutations in KCNJ11 or ABCC8, prevent KATP channel closure and hence reduce insulin secretion in response to hyperglycemia, resulting in diabetes.
Approximately 90% of children with activating mutations in the KATP channel genes can be switched from insulin to off-label SU tablets.
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