Transient neonatal diabetes due to activating mutation in the ABCC8 gene encoding SUR1.

Simple item page
dc.contributor.authorBatra, C M
dc.contributor.authorGupta, Nomeeta
dc.contributor.authorAtwal, Gurdeep
dc.contributor.authorGupta, Vimal
dc.date.accessioned2012-10-25T05:35:12Z
dc.date.available2012-10-25T05:35:12Z
dc.date.issued2009-11
dc.description.abstractWe 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.en_US
dc.identifier.citationBatra 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.en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/142433
dc.language.isoenen_US
dc.source.urihttps://medind.nic.in/icb/t09/i11/icbt09i11p1169.pdfen_US
dc.subject.meshATP-Binding Cassette Transporters --genetics
dc.subject.meshChromosomes, Human, Pair 6 --genetics
dc.subject.meshDiabetes Mellitus, Type 1 --blood
dc.subject.meshDiabetes Mellitus, Type 1 --genetics
dc.subject.meshDiabetic Ketoacidosis --drug therapy
dc.subject.meshDiabetic Ketoacidosis --genetics
dc.subject.meshHumans
dc.subject.meshHypoglycemic Agents --therapeutic use
dc.subject.meshInfant
dc.subject.meshInsulin --therapeutic use
dc.subject.meshMale
dc.subject.meshPoint Mutation --genetics
dc.subject.meshPotassium Channels, Inwardly Rectifying --genetics
dc.subject.meshReceptors, Drug --genetics
dc.subject.meshSulfonylurea Compounds --therapeutic use
dc.titleTransient neonatal diabetes due to activating mutation in the ABCC8 gene encoding SUR1.en_US
dc.typeArticleen_US
Files
Original bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
ijp2009v76n11p1169.pdf
Size:
272.1 KB
Format:
Adobe Portable Document Format
Description:
Journal article
Download
License bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
license.txt
Size:
1.71 KB
Format:
Item-specific license agreed upon to submission
Description:
Download
Collections
Indian Journal of Pediatrics