Transient neonatal diabetes due to a missense mutation (E227K) in the gene encoding the ATP-sensitive potassium channel (KCNJ11).
Neonatal diabetes is a monogenic form of diabetes. Herein, we report on a newborn presenting diabetic ketoacidosis at 17 days of life. A KCNJ11 mutation was identified. In such cases, insulin can be replaced by sulfonylurea with a successful metabolic control, as an example of how molecular diagnosis may influence the clinical management of the disorder.
Pediatric Department, Hospital Divino Espírito Santo Ponta Delgada, Açores, 9500-317, Portugal.
Luísa
L
Martins
Pediatric Department, Hospital Divino Espírito Santo Ponta Delgada, Açores, 9500-317, Portugal.
Rita
R
Lourenço
Pediatric Department, Hospital Divino Espírito Santo Ponta Delgada, Açores, 9500-317, Portugal.
Ana Lúcia
AL
Maia
Pediatric Department, Hospital Divino Espírito Santo Ponta Delgada, Açores, 9500-317, Portugal.
Paula
P
Maciel
Pediatric Department, Hospital Divino Espírito Santo Ponta Delgada, Açores, 9500-317, Portugal.
Maria Isabel
MI
Monteiro
Pediatric Department, Hospital Divino Espírito Santo Ponta Delgada, Açores, 9500-317, Portugal.
Lucinda
L
Pacheco
Endocrinology Department, Hospital Divino Espírito Santo Ponta Delgada, Açores, 9500-317, Portugal.
João
J
Anselmo
Endocrinology Department, Hospital Divino Espírito Santo Ponta Delgada, Açores, 9500-317, Portugal.
Rui
R
César
Pediatric Department, Hospital Divino Espírito Santo Ponta Delgada, Açores, 9500-317, Portugal.
Maria Fernanda
MF
Gomes
Insulin; KATP sensitive channels; KCNJ11 gene; neonatal diabetes mellitus; sulfonylureas