Genetic characteristics of patients with congenital hyperinsulinism

Current Opinion in Pediatrics
Mary Ellen Vajravelu, Diva D De León

Abstract

Congenital hyperinsulinism is the most common cause of persistent hypoglycemia in infants and children. Early and appropriate recognition and treatment of hypoglycemia is vital to minimize neurocognitive impairment. There are at least 11 known monogenic forms of hyperinsulinism and several associated syndromes. Molecular diagnosis allows for prediction of the effectiveness of diazoxide and the likelihood of focal hyperinsulinism. Inactivating mutations in the genes encoding the ATP-sensitive potassium channel (KATP hyperinsulinism) account for 60% of all identifiable mutations, including 85% of diazoxide-unresponsive cases. Syndromes or disorders associated with hyperinsulinism include Beckwith-Wiedemann syndrome, Kabuki syndrome, Turner syndrome, and congenital disorders of glycosylation. Although focal hyperinsulinism can be cured by resection of the lesion, therapeutic options for nonfocal hyperinsulinism remain limited and include diazoxide, octreotide, long-acting somatostatin analogs, and near-total pancreatectomy. Although sirolimus has been reported to improve glycemic control in infants with diazoxide-unresponsive hyperinsulinism, the extent of improvement has been limited, and significant adverse events have been repo...Continue Reading

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Citations

Sep 19, 2019·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Laura BetchermanDamien Noone
Jun 14, 2020·Clinical Endocrinology·Henrike HoermannSebastian Kummer
Jul 17, 2020·International Journal of Pediatric Endocrinology·Joanna Yuet-Ling TungKelvin Yuen Kwong Chan
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Jan 12, 2021·Frontiers in Endocrinology·Marcia RoeperThomas Meissner
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Apr 3, 2021·NeoReviews·Kathryn Sims
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Aug 11, 2021·Anales De Pediatría·Katia Herrera AzabacheAna Pilar Nso-Roca
Oct 17, 2021·Journal of Investigative Medicine High Impact Case Reports·Janlie L BanasSuresh Chandran

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