Acta Diabetologica

, Volume 50, Issue 5, pp 801–805

An Egyptian case of congenital hyperinsulinism of infancy due to a novel mutation in KCNJ11 encoding Kir6.2 and response to octreotide

  • Eman M. Sherif
  • Abeer A. Abdelmaksoud
  • Nancy S. Elbarbary
  • Pål Rasmus Njølstad
Case Report

DOI: 10.1007/s00592-010-0217-1

Cite this article as:
Sherif, E.M., Abdelmaksoud, A.A., Elbarbary, N.S. et al. Acta Diabetol (2013) 50: 801. doi:10.1007/s00592-010-0217-1

Abstract

Congenital hyperinsulinism of infancy (CHI) is a rare heterogeneous disease mostly attributable to mutations in the genes encoding the KATP channel subunits found in pancreatic β-cells. Here, we report a child presenting at day 1 with persistent hyperinsulinemic hypoglycemia and who underwent open laparotomy and subtotal pancreatectomy with resection of tail and body of pancreas at 30 days of age. Normoglycemia was restored by Octreotide that was discontinued when the child was 7-month old. However, 3 months later Octreotide was re-administered as hypoglycemic attacks recurred. On follow-up, the child has adequate glycemic control and is thriving well with no neurodevelopmental morbidity. Genetic analysis revealed the novel mutation c.407G > A [p.R136H] in KCNJ11 encoding Kir6.2, confirming the diffuse form of CHI. This is to our knowledge the first reported Egyptian case of CHI due to a mutation in KCNJ11.

Keywords

Neonatal hypoglycemiaHyperinsulinismKCNJ11 mutationOctreotide

Abbreviations

CHI

Congenital hyperinsulinism of infancy

GCK

Glucokinase

GDH

Glutamate dehydrogenase

HADHSC

Hydroxyacyl coenzyme A dehydrogenase

KATP channel

Adenosine triphosphate-sensitive potassium channel

Kir

Potassium inward rectifier

PHHI

Persistent hyperinsulinemic hypoglycemia of infancy

SUR

Sulfonylurea receptor

Copyright information

© Springer-Verlag 2010

Authors and Affiliations

  • Eman M. Sherif
    • 1
  • Abeer A. Abdelmaksoud
    • 1
  • Nancy S. Elbarbary
    • 1
    • 4
  • Pål Rasmus Njølstad
    • 2
    • 3
  1. 1.Department of PediatricsAin Shams UniversityCairoEgypt
  2. 2.Department of PediatricsHaukeland University HospitalBergenNorway
  3. 3.Department of Clinical MedicineUniversity of BergenBergenNorway
  4. 4.Department of Pediatrics, Pediatric Endocrinology and Diabetes UnitAin Shams University, CairoCairoEgypt