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

Katanic, Dragan; Vorgucin, Ivana; Hattersley, Andrew; Ellard, Sian; Houghton, Jayne A L; Obreht, Dragana; Knezevic Pogancev, Marija; Vlaski, Jovan; Pavkov, Danijela

Katanic, Dragan; Vorgucin, Ivana; Hattersley, Andrew; Ellard, Sian; Houghton, Jayne A L; Obreht, Dragana; Knezevic Pogancev, Marija; Vlaski, Jovan; Pavkov, Danijela.

Afiliación

Katanic D; University of Novi Sad, Faculty of Medicine, Institute for Health Care of Children and Youth of Vojvodina, Serbia. Electronic address: dr.dragan.katanic@gmail.com.
Vorgucin I; University of Novi Sad, Faculty of Medicine, Institute for Health Care of Children and Youth of Vojvodina, Serbia.
Hattersley A; University of Exeter-Medical School, UK.
Ellard S; University of Exeter-Medical School, UK.
Houghton JAL; Royal Devon and Exeter Hospital, Molecular Genetics Laboratory, UK.
Obreht D; University of Novi Sad, Department of Biology-Genetics, Serbia.
Knezevic Pogancev M; University of Novi Sad, Faculty of Medicine, Institute for Health Care of Children and Youth of Vojvodina, Serbia.
Vlaski J; University of Novi Sad, Faculty of Medicine, Institute for Health Care of Children and Youth of Vojvodina, Serbia.
Pavkov D; University of Novi Sad, Faculty of Medicine, Institute for Health Care of Children and Youth of Vojvodina, Serbia.

Diabetes Res Clin Pract ; 129: 59-61, 2017 Jul.

Article en En | MEDLINE | ID: mdl-28511139

ABSTRACT

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.

Asunto(s)

Diabetes Mellitus Tipo 1/diagnóstico; Hipoglucemiantes/administración & dosificación; Compuestos de Sulfonilurea/administración & dosificación; Receptores de Sulfonilureas/genética; Preescolar; Diabetes Mellitus Tipo 1/tratamiento farmacológico; Diabetes Mellitus Tipo 1/genética; Cetoacidosis Diabética/diagnóstico; Cetoacidosis Diabética/tratamiento farmacológico; Cetoacidosis Diabética/genética; Sustitución de Medicamentos; Estudios de Seguimiento; Humanos; Lactante; Recién Nacido; Enfermedades del Recién Nacido/diagnóstico; Enfermedades del Recién Nacido/tratamiento farmacológico; Enfermedades del Recién Nacido/genética; Insulina/administración & dosificación; Masculino; Mutación; Mutación Missense; Canales de Potasio de Rectificación Interna/genética

Palabras clave

ABCC8 mutation; Neonatal diabetes; Sulfonylurea

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Compuestos de Sulfonilurea / Diabetes Mellitus Tipo 1 / Receptores de Sulfonilureas / Hipoglucemiantes Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Child, preschool / Humans / Infant / Male / Newborn Idioma: En Revista: Diabetes Res Clin Pract Asunto de la revista: ENDOCRINOLOGIA Año: 2017 Tipo del documento: Article

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