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

• Main Authors: Barbara Piccini (Author), Caterina Coviello (Author), Livia Drovandi (Author), Artuso Rosangela (Author), Francesca Monzali (Author), Emilio Casalini (Author), Sabrina Giglio (Author), Sonia Toni (Author), Carlo Dani (Author)
• Format: Book
• Published: Thieme Medical Publishers, Inc., 2018-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.
• Notes: 2157-6998; 2157-7005; 10.1055/s-0038-1636427
• Keywords: neonatal diabetes mellitus; monogenic diabetes; abcc8; next-generation sequencing; β cells; newborns; Gynecology and obstetrics; RG1-991
• Source: American Journal of Perinatology Reports, Vol 08, Iss 01, Pp e39-e42 (2018)

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.