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

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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.

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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

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Acknowledgments

We thank Janne Molnes for genetic analysis of the patient. Also, we would like to thank our patient and her family for consenting to present her case.

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Authors and Affiliations

  1. Department of Pediatrics, Ain Shams University, Cairo, Egypt

    Eman M. Sherif, Abeer A. Abdelmaksoud & Nancy S. Elbarbary

  2. Department of Pediatrics, Haukeland University Hospital, Bergen, Norway

    Pål Rasmus Njølstad

  3. Department of Clinical Medicine, University of Bergen, Bergen, Norway

    Pål Rasmus Njølstad

  4. Department of Pediatrics, Pediatric Endocrinology and Diabetes Unit, Ain Shams University, Cairo, 25 Ahmed Fuad St. Saint Fatima, Heliopolis, Cairo, 11361, Egypt

    Nancy S. Elbarbary

Authors
  1. Eman M. Sherif
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  2. Abeer A. Abdelmaksoud
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  3. Nancy S. Elbarbary
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  4. Pål Rasmus Njølstad
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Correspondence to Nancy S. Elbarbary.

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Sherif, E.M., Abdelmaksoud, A.A., Elbarbary, N.S. et al. An Egyptian case of congenital hyperinsulinism of infancy due to a novel mutation in KCNJ11 encoding Kir6.2 and response to octreotide. Acta Diabetol 50, 801–805 (2013). https://doi.org/10.1007/s00592-010-0217-1

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