Transient neonatal diabetes due to activating mutation in the ABCC8 gene encoding SUR1.
Loading...
Date
2009-11
Journal Title
Journal ISSN
Volume Title
Publisher
Abstract
We report a 2 month male child presenting with diabetic ketoacidosis (DKA) and seizures treated with intravenous fluids
and intravenous insulin infusion till the ketoacidosis was reversed, thereafter responding well to sulphonylureas and at age
of 13 months going into complete remission. At age of 11 mo developmental delay in the form of negative neck holding and
inability to sit without support was seen. The child is 3 yr of age now ,euglycemic without any insulin or oral hypoglycemic
agents but has severe developmental delay. Genetic analysis was negative for mutations of KCNJ11, 6q24, Glucokinase
and IPF-1 genes. A mutation R1183W was found in the ABCC8 gene encoding SUR1, which was the cause of neonatal diabetes in this case.
Description
Keywords
Citation
Batra C M, Gupta Nomeeta, Atwal Gurdeep, Gupta Vimal. Transient neonatal diabetes due to activating mutation in the ABCC8 gene encoding SUR1. Indian Journal of Pediatrics. 2009 Nov; 76(11): 1169-1172.