Transient neonatal diabetes mellitus and activating mutation in the KCNJ11 gene in two siblings

T Kamoun; I Chabchoub; S Ben Ameur; S Kmiha; H Aloulou; H Cave; M Polak; M Hachicha

doi:10.1016/j.arcped.2017.02.021

Transient neonatal diabetes mellitus and activating mutation in the KCNJ11 gene in two siblings

Arch Pediatr. 2017 May;24(5):453-456. doi: 10.1016/j.arcped.2017.02.021. Epub 2017 Mar 24.

Authors

T Kamoun¹, I Chabchoub¹, S Ben Ameur², S Kmiha¹, H Aloulou¹, H Cave³, M Polak⁴, M Hachicha¹

Affiliations

¹ Faculty of medicine Sfax, university of Sfax, Sfax, Tunisia; Service de pédiatrie, pediatric department, Hédi Chaker hospital, El Ain street K 0.5, 3029 Sfax, Tunisia.
² Faculty of medicine Sfax, university of Sfax, Sfax, Tunisia; Service de pédiatrie, pediatric department, Hédi Chaker hospital, El Ain street K 0.5, 3029 Sfax, Tunisia. Electronic address: benameursalma@gmail.com.
³ Department of genetics, Robert-Debré university hospital, Assistance publique-Hôpitaux de Paris, 75019 Paris, France.
⁴ Paediatric endocrine unit, centre of rare endocrine diseases of growth, Necker-Enfants-Malades hospital, AP-HP, 75012 Paris, France.

PMID: 28347637
DOI: 10.1016/j.arcped.2017.02.021

Abstract

Transient neonatal diabetes mellitus is a rare disease usually associated with chromosome 6 abnormalities. Mutations of the genes encoding the potassium channel are rarely associated with these transitional forms. Herein, we report the clinical features of two siblings with a heterozygous mutation C679 G>A in the KCNJ11 gene.

Publication types

Case Reports

MeSH terms

Adolescent
Blood Glucose / metabolism
Child
Child, Preschool
Chromosome Aberrations
Chromosomes, Human, Pair 6 / genetics*
DNA Mutational Analysis
Diabetes Mellitus / blood
Diabetes Mellitus / diagnosis
Diabetes Mellitus / drug therapy
Diabetes Mellitus / genetics*
Follow-Up Studies
Genetic Carrier Screening*
Glycated Hemoglobin / metabolism
Humans
Infant
Infant, Newborn
Infant, Newborn, Diseases / blood
Infant, Newborn, Diseases / diagnosis
Infant, Newborn, Diseases / drug therapy
Infant, Newborn, Diseases / genetics*
Infusions, Intravenous
Injections, Subcutaneous
Insulin Aspart / administration & dosage
Insulin, Regular, Pork / administration & dosage
Isophane Insulin, Human / administration & dosage
Male
Potassium Channels, Inwardly Rectifying / genetics*
Recurrence

Substances

Blood Glucose
Glycated Hemoglobin A
Insulin, Regular, Pork
Isophane Insulin, Human
Kir6.2 channel
Potassium Channels, Inwardly Rectifying
hemoglobin A1c protein, human
insulin, neutral
Insulin Aspart

Supplementary concepts

Diabetes Mellitus, Transient Neonatal, 1