A Case Report on Congenital Hyperinsulinism Associated with ABCC8 Nonsense Mutation: Good Response to Octreotide

Authors

  • Suhaimi Hussain Paediatric Department Hospital University Science Malaysia, School of Medical Sciences 16150 Kota Bharu Kelantan http://orcid.org/0000-0002-7164-3076
  • Sarah Flanagan Molecular Genetics Laboratory, Royal Devon and Exeter NHS Healthcare Trust, Exeter
  • Sian Ellard Molecular Genetics Laboratory, Royal Devon and Exeter NHS Healthcare Trust, Exeter

Keywords:

, congenital hyperinsulinism, PHHI, ABCC8 mutation, diazoxide, octreotide, KATP channel

Abstract

A 2.4 kg baby boy born via Caesarian section at 35 weeks had the first onset of hypoglycemia at 2 hours of life. The infant required a glucose load of 30 mg/kg/min. Insulin level was 19.6 pmol/L (normal value 17.8-173.0) in the absence of ketosis. He was resistant to oral diazoxide but responded to octreotide infusion. The boy was found to be heterozygous for an ABCC8 nonsense mutation, p.R934*. We present our experience on the use of subcutaneous octreotide for 2 years for the treatment of diazoxide resistant congenital hyperinsulinism (CHI).

Downloads

Download data is not yet available.

Author Biography

Suhaimi Hussain, Paediatric Department Hospital University Science Malaysia, School of Medical Sciences 16150 Kota Bharu Kelantan

Paediatric Department

Senior Lecturer, Paediatrician, Paediatric Endocrinologist

References

Hussain K. Congenital hyperinsulinism. Semin Fetal Neonatal Med. 2005;10(4):369-76. https://doi.org/10.1016/j.siny.2005.03.001.

Hussain K. Insights in congenital hyperinsulinism. Endocr Dev. 2007;11:106-21. https://doi.org/10.1159/0000111066. PMID: 17986831.

Meissner T, Mayatepek E. Clinical and genetic heterogeneity in congenital hyperinsulinism. Eur J Pediatr. 2002;161(1):6-20. https://doi.org/10.1007/s004310100850.

James C, Kapoor RR, Ismail D, Hussain K. The genetic basis of congenital hyperinsulinism. J Med Genet. 2009;46(5):289-99. https://doi.org/10.1136/jmg.2008.064337.

Grimberg A, Ferry RJ Jr, Kelly A, Koo-McCoy S, Polonsky K, Glaser B, et al. Dysregulation of insulin secretion in children with congenital hyperinsulinism due to sulfonylurea receptor mutations. Diabetes. 2001;50(2):322-8. https://doi.org/10.2337/diabetes.50.2.322.

Bellanné-Chantelot C, Saint-Martin C, Ribeiro MJ, Vaury C, Verkarre V, Arnoux JB, et al. ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism. J Med Genet. 2010;47(11):752-9. https://doi.org/10.1136/jmg.2009.075416.

Stanley CA. Perspective on the genetics and diagnosis of congenital hyperinsulinism disorders. J Clin Endocrinol Metab. 2016;101(3):815-26. https://doi.org/10.1210/jc.2015-3651.

Sweet CB, Grayson S, Polak M. Management strategies for neonatal hypoglycemia. J Pediatr Pharmacol Ther. 2013;18(3):199–208. https://doi.org/10.5863/1551-6776-18.3.199.

Gilbert C. Investigation and management of congenital hyperinsulinism. Br J Nurs. 2009;18(21):1306-10. https://doi.org/10.12968/bjon.2009.18.21.45360.

Guerrero-Fernández J, González Casado I, Espinoza Colindres L, Gracia Bouthelier R. Congenital hyperinsulinism. Review of 22 cases. An Pediatr (Barc). 2006;65(1):22-31. PMID: 16945287.

Demirbilek H, Shah P, Arya VB, Hinchey L, Flanagan SE, Ellard S, Hussain K. Long-term follow-up of children with congenital hyperinsulinism on octreotide therapy. J Clin Endocrinol Metab. 2014;99(10):3660-7. https://doi.org/10.1210/jc.2014-1866.

Hussain K, Aynsley-Green A, Stanley CA. Medications used in the treatment of hypoglycemia due to congenital hyperinsulinism of infancy (HI). Pediatr Endocrinol Rev. 2004;2(Suppl 1):163-7. PMID: 16456495.

Sandal T, Laborie LB, Brusgaard K, Eide SÅ, Christesen HBT, Søvik O, et al. The spectrum of ABCC8 mutations in Norwegian patients with congenital hyperinsulinism of infancy. Clin Genet. 2009;75(5):440-8. https://doi.org/10.1111/j.1399-0004.2009.01152.x.

Saint-Martin C , Zhou Q, Martin GM, Vaury C, Leroy , Arnoux JB, et al. Monoallelic ABCC8 mutations are a common cause of diazoxide unresponsive diffuse form of congenital hyperinsulinism. Clin Genet. 2015;87(5):448-54. https://doi.org/10.1111/cge.12428.

Hu S, Xu Z, Yan J, Liu M, Sun B, Li W, et al. The treatment effect of diazoxide on 44 patients with congenital hyperinsulinism. J Pediatr Endocrinol Metab. 2012;25(11-12):1119-22. https://doi.org/10.1515/jpem-2012-0224.

Fournet JC, Mayaud C, de Lonlay P, Verkarre V, Rahier J, Brunelle F, et al. Loss of imprinted genes and paternal SUR1 mutations lead to focal form of congenital hyperinsulinism. Horm Res. 2000;53(Suppl 1):2-6. https://doi.org/10.1159/000053197.

Sempoux C, Guiot Y, Jaubert F, Rahier J. Focal and diffuse forms of congenital hyperinsulinism: The keys for differential diagnosis. Endocr Pathol. 2004;15(3):241-6. https://doi.org/10.1385/EP:15:3:241.

Hardy OT, Hernandez-Pampaloni M, Saffer JR, Suchi M, Ruchelli E, Zhuang H, et al. Diagnosis and localization of focal congenital hyperinsulinism by 18F-fluorodopa PET scan. J Pediatr. 2007;150(2):140-5. https://doi.org/10.1016/j.jpeds.2006.08.028.

Mohnike K, Blankenstein O, Minn H, Mohnike W, Fuchtner F, Otonkoski T. [18F]-DOPA positron emission tomography for preoperative localization in congenital hyperinsulinism. Horm Res. 2008;70(2):65-72. https://doi.org/10.1159/000137655.

Thornton PS, Alter CA, Katz LE, Baker L, Stanley CA. Short- and long-term use of octreotide in the treatment of congenital hyperinsulinism. J Pediatr. 1993;123(4):637-43. PMID: 8410522.

Lord K, Radcliffe J, Gallagher PR, Adzick NS, Stanley CA, De León DD. High risk of diabetes and neurobehavioral deficits in individuals with surgically treated hyperinsulinism. J Clin Endocrinol Metab.2015;100(11):4133-9. https://doi.org/10.1210/jc.2015-2539.

Published

2016-11-07

How to Cite

Hussain, S., Flanagan, S., & Ellard, S. (2016). A Case Report on Congenital Hyperinsulinism Associated with ABCC8 Nonsense Mutation: Good Response to Octreotide. Journal of the ASEAN Federation of Endocrine Societies, 31(2), 178. Retrieved from https://asean-endocrinejournal.org/index.php/JAFES/article/view/340

Issue

Section

Case Reports