A successful transition to sulfonylurea treatment in male infant with neonatal diabetes caused by the novel abcc8 gene mutation and three years follow-up

Dragan Katanic; Ivana Vorgučin; Andrew Hattersley; Sian Ellard; Jayne A L Houghton; Dragana Obreht; Marija Knežević Pogančev; Jovan Vlaški; Danijela Pavkov

doi:10.1016/j.diabres.2017.04.021

A successful transition to sulfonylurea treatment in male infant with neonatal diabetes caused by the novel abcc8 gene mutation and three years follow-up

Diabetes Res Clin Pract. 2017 Jul:129:59-61. doi: 10.1016/j.diabres.2017.04.021. Epub 2017 May 3.

Authors

Dragan Katanic¹, Ivana Vorgučin², Andrew Hattersley³, Sian Ellard³, Jayne A L Houghton⁴, Dragana Obreht⁵, Marija Knežević Pogančev², Jovan Vlaški², Danijela Pavkov²

Affiliations

¹ University of Novi Sad, Faculty of Medicine, Institute for Health Care of Children and Youth of Vojvodina, Serbia. Electronic address: [email protected].
² University of Novi Sad, Faculty of Medicine, Institute for Health Care of Children and Youth of Vojvodina, Serbia.
³ University of Exeter-Medical School, UK.
⁴ Royal Devon and Exeter Hospital, Molecular Genetics Laboratory, UK.
⁵ University of Novi Sad, Department of Biology-Genetics, Serbia.

Abstract

Neonatal diabetes mellitus is a rare monogenic disease with incidence of 1/90,000 newborns. A case of two months aged male infant with life threatening diabetic ketoacidosis is presented with novel ABCC8 gene mutation (p.F577L), successful transition from insulin to sulfonylurea and follow-up of three years.

Keywords: ABCC8 mutation; Neonatal diabetes; Sulfonylurea.

Publication types

Case Reports

MeSH terms

Child, Preschool
Diabetes Mellitus, Type 1 / diagnosis*
Diabetes Mellitus, Type 1 / drug therapy
Diabetes Mellitus, Type 1 / genetics
Diabetic Ketoacidosis / diagnosis
Diabetic Ketoacidosis / drug therapy
Diabetic Ketoacidosis / genetics
Drug Substitution
Follow-Up Studies
Humans
Hypoglycemic Agents / administration & dosage*
Infant
Infant, Newborn
Infant, Newborn, Diseases / diagnosis
Infant, Newborn, Diseases / drug therapy
Infant, Newborn, Diseases / genetics
Insulin / administration & dosage
Male
Mutation
Mutation, Missense
Potassium Channels, Inwardly Rectifying / genetics
Sulfonylurea Compounds / administration & dosage*
Sulfonylurea Receptors / genetics*

Substances

ABCC8 protein, human
Hypoglycemic Agents
Insulin
Potassium Channels, Inwardly Rectifying
Sulfonylurea Compounds
Sulfonylurea Receptors

Grants and funding

Wellcome Trust/United Kingdom