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 preterminfant with TNDM due to an ABCC8mutation 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 andminimizing the burden of injections. At 2months, corrected age insulin doses were progressively decreased until discontinuation.