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CC BY-NC-ND 4.0 · AJP Rep 2018; 08(01): e39-e42
DOI: 10.1055/s-0038-1636427
Case Report
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

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

Barbara Piccini
1   Tuscany Regional Centre of Pediatric Diabetes, Meyer University Children's Hospital, Florence, Italy
,
Caterina Coviello
2   Division of Neonatology, Careggi University Hospital of Florence, Florence, Italy
,
Livia Drovandi
2   Division of Neonatology, Careggi University Hospital of Florence, Florence, Italy
,
Artuso Rosangela
3   Medical Genetics Unit, Meyer University Children's Hospital, Florence, Italy
,
Francesca Monzali
4   Pediatric Dietology Unit, Meyer University Children's Hospital, Florence, Italy
,
Emilio Casalini
5   University of Florence, Florence, Italy
,
Sabrina Giglio
3   Medical Genetics Unit, Meyer University Children's Hospital, Florence, Italy
6   Medical Genetics Unit, Department of Clinical and Experimental Biomedical Sciences ‘Mario Serio’, University of Florence, Florence, Italy
,
Sonia Toni
1   Tuscany Regional Centre of Pediatric Diabetes, Meyer University Children's Hospital, Florence, Italy
,
Carlo Dani
7   Department of Neuroscience, Psychology, Drug Research and Child Health, Careggi University Hospital of Florence, Florence, Italy
› Author Affiliations
Further Information

Publication History

07 September 2017

14 November 2017

Publication Date:
07 March 2018 (online)

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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.

Keywords

neonatal diabetes mellitus - monogenic diabetes - ABCC8 - next-generation sequencing - β cells - newborns

Learning Points

• Neonatal/infancy onset diabetes mellitus (NDM) is a monogenic form of diabetes occurring within 6 months from birth that can be either permanent or transient.


• Management of neonatal hyperglycemia is particularly challenging in enteral fed very low birth weight infants.


• This is the first case in which a patient with transient NDM is treated with a specifically prepared insulin dilution for pen injector instead of syringes with distilled water. This treatment allowed the stabilization of glycemia and normal growth.


 

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