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.

Differences between transient neonatal diabetes mellitus subtypes can guide diagnosis and therapy

“…Patients included in the study were diagnosed with TNDM between 1982 and 2017 in 15 Italian centres for paediatric diabetes. Genetic data of eight patients with K ATP mutations included in this paper had been previously reported by our group (2,13,14,15).…”