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

Piccini, Barbara;Coviello, Caterina;Drovandi, Livia;Rosangela, Artuso;Monzali, Francesca;Casalini, Emilio;Giglio, Sabrina

Methodology

;Toni, Sonia;Dani, Carlo

2018-01-01

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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.