Persistent hyperinsulinemic hypoglycemia of infancy due to homozygous KCNJ11 (T294M) mutation

V Ilamaran; C Venkatesh; K Manish; B Adhisivam

doi:10.1007/s12098-010-0100-7

Persistent hyperinsulinemic hypoglycemia of infancy due to homozygous KCNJ11 (T294M) mutation

Indian J Pediatr. 2010 Jul;77(7):803-4. doi: 10.1007/s12098-010-0100-7. Epub 2010 Jun 29.

Authors

V Ilamaran¹, C Venkatesh, K Manish, B Adhisivam

Affiliation

¹ Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Pudhucherry, India. dr_ilamaran@yahoo.co.in

PMID: 20589481
DOI: 10.1007/s12098-010-0100-7

Abstract

Hyperinsulinemic hypoglycemia is the most common cause of persistent hypoglycemia in infancy. While most of the cases are sporadic more than 100 mutations have been reported in the familial type. The authors report a case of familial hyperinsulinemic hypoglycemia with homozygous T294M mutation of the KCNJ11 gene, which responded to diazoxide therapy.

Publication types

Case Reports

MeSH terms

Antihypertensive Agents / therapeutic use
Congenital Hyperinsulinism / drug therapy
Congenital Hyperinsulinism / genetics*
Diazoxide / therapeutic use
Female
Homozygote*
Humans
India
Infant, Newborn
Mutation*
Potassium Channels, Inwardly Rectifying / genetics*

Substances

Antihypertensive Agents
Kir6.2 channel
Potassium Channels, Inwardly Rectifying
Diazoxide