Congenital hyperinsulinism: a family case report

Authors

  • Amy Elizabeth Morrison University Hospitals of Leicester
  • Dabean Faraj Department of Diabetes, University Hospitals of Leicester
  • Marie-France Kong Department of Diabetes, University Hospitals of Leicester

DOI:

https://doi.org/10.15277/bjd.2023.422

Keywords:

Congenital Hyperinsulinism, Neonatal hypoglycaemia, Macrosomia, K-ATP channel and ABCC8

References

Gillis D. Familial hyperinsulinism 2003, updated 2019. In: Adam MP, Everman DB, Mirzaa GM et al, eds. Gene Reviews Seattle (WA), University of Washington, Seattle, 1993-2023. Available from https://www.ncbi.nlm.nih.gov/books/NBK1375/

Demirbilek H, Rahman SA, Buyukyilmaz GG, Hussain K. Diagnosis and treatment of hyperinsulinaemic hypoglycaemia and its implications for paediatric endocrinology. Int J Pediatr Endocrinol 2017;2017:9. https://doi.org/10.1186/s13633-017-0048-8. Epub 2017 Aug 29.

Senniappan S, Arya VB, Hussain K. The molecular mechanisms, diagnosis and management of congenital hyperinsulinism. Indian J Endocrinol Metab 2013;17(1):19–30. https://doi.org/10.4103/2230- 8210.107822

Inagaki N, Gonoi T, Clement JP, et al. Reconstitution of IKATP: an inward rectifier subunit plus the sulfonylurea receptor. Science 1995;270(5239):1166–70. https://doi.org/10.1126/science.270.5239.1166

Arya VB, Guemes M, Nessa A, et al. Clinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 mutations. Eur J Endocrinol 2014;171(6):685-95. https://doi.org/10.1530/EJE-14-0353

Rozenkova K, Nessa A, Obermannova B, et al. Could a combination of heterozygous ABCC8 and KCNJ11 mutations cause congenital hyperinsulinism? J Pediatr Endocrinol Metab 2017;30(12):1311-15. https://doi.org/10.1515/jpem-2017-0163. PMID: 29127764.

Guemes M, Rahman SA, Kapoor RR, et al. Hyperinsulinemic hypoglycemia in children and adolescents: recent advances in understanding of pathophysiology and management. Reviews Endocrine Metabolic Disorders 2020;21(4):577-97. https://doi.org/10.1007/s11154-020-09548-7

Gan HW, Katuganpola H. Growth hormone deficiency in children. BMJ Best Practice 2022. Available at Growth hormone deficiency in children – Symptoms, diagnosis and treatment | BMJ Best Practice, last accessed 8th April 2023.

Doyle ME, Egan JM. Pharmacological agents that directly modulate insulin secretion. Pharmacol Rev 2003;55:105-31. https://doi.org/10.1124/pr.55.1.7

Desia J, Key L, Swindall A, et al. The danger of diazoxide in the neonatal intensive care unit. Therapeutic Advances in Drug Safety 2021;12:204209862111011338. https://doi.org/10.1177/20420986211011338

Downloads

Published

2023-12-18

Issue

Section

Case Reports

Most read articles by the same author(s)

1 2 > >>