Transient Neonatal Diabetes Mellitus in a Very Preterm Infant due to ABCC8 Mutation

Abstract

Neonatal diabetes mellitus (NDM) is a monogenic form of diabetes occurring within 6 months from birth. NDM can be permanent or transient (TNDM). We report the case of a preterm infant with TNDM due to an ABCC8 mutation identified by next-generation sequencing. The pancreatic adenosine triphosphate (ATP)-sensitive K+ (K-ATP) channel is a key regulator of insulin secretion. Gain-of-function mutations in the genes encoding the Kir6.2 (KCNJ11) and SUR1 (ABCC8) subunits of the channel cause neonatal diabetes. The patient was successfully managed with insulin lispro at a 1:100 dilution, drawn up in an insulin pen injector with a 4-mm needle. The insulin lispro dilution allowed administration of the exact insulin doses, obtaining a good glycemic control and minimizing the burden of injections. At 2 months, corrected age insulin doses were progressively decreased until discontinuation.

Keywords

neonatal diabetes mellitus - monogenic diabetes - ABCC8 - next-generation sequencing - β cells - newborns

Learning Points

• Neonatal/infancy onset diabetes mellitus (NDM) is a monogenic form of diabetes occurring within 6 months from birth that can be either permanent or transient.

• Management of neonatal hyperglycemia is particularly challenging in enteral fed very low birth weight infants.

• This is the first case in which a patient with transient NDM is treated with a specifically prepared insulin dilution for pen injector instead of syringes with distilled water. This treatment allowed the stabilization of glycemia and normal growth.

• References

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