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

Autor: Piccini B; Tuscany Regional Centre of Pediatric Diabetes, Meyer University Children's Hospital, Florence, Italy., Coviello C; Division of Neonatology, Careggi University Hospital of Florence, Florence, Italy., Drovandi L; Division of Neonatology, Careggi University Hospital of Florence, Florence, Italy., Rosangela A; Medical Genetics Unit, Meyer University Children's Hospital, Florence, Italy., Monzali F; Pediatric Dietology Unit, Meyer University Children's Hospital, Florence, Italy., Casalini E; University of Florence, Florence, Italy., Giglio S; Medical Genetics Unit, Meyer University Children's Hospital, Florence, Italy.; Medical Genetics Unit, Department of Clinical and Experimental Biomedical Sciences 'Mario Serio', University of Florence, Florence, Italy., Toni S; Tuscany Regional Centre of Pediatric Diabetes, Meyer University Children's Hospital, Florence, Italy., Dani C; Department of Neuroscience, Psychology, Drug Research and Child Health, Careggi University Hospital of Florence, Florence, Italy.
Jazyk: angličtina
Zdroj: AJP reports [AJP Rep] 2018 Jan; Vol. 8 (1), pp. e39-e42. Date of Electronic Publication: 2018 Mar 07.
DOI: 10.1055/s-0038-1636427
Abstrakt: 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.
Databáze: MEDLINE
Externí odkaz: