Journal
NATURE CLINICAL PRACTICE ENDOCRINOLOGY & METABOLISM
Volume 3, Issue 1, Pages 57-68Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ncpendmet0368
Keywords
ATP-sensitive potassium channels; glucokinase; glutamate dehydrogenase; hyperinsulinism; hypoglycemia
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Funding
- NIDDK NIH HHS [K12-DK-063682-02, 2R01 DK53012-07, 2R01DK5628-06] Funding Source: Medline
- NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES [K12DK063682, R01DK053012] Funding Source: NIH RePORTER
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Hyperinsulinism is the single most common mechanism of hypoglycemia in neonates. Dysregulated insulin secretion is responsible for the transient and prolonged forms of neonatal hypoglycemia, and congenital genetic disorders of insulin regulation represent the most common of the permanent disorders of hypoglycemia. Mutations in at least five genes have been associated with congenital hyperinsulinism: they encode glucokinase, glutamate dehydrogenase, the mitochondrial enzyme short-chain 3-hydroxyacyl-CoA dehydrogenase, and the two components (sulfonylurea receptor 1 and potassium inward rectifying channel, subfamily J, member 11) of the ATP-sensitive potassium channels (K-ATP channels). K-ATP hyperinsulinism is the most common and severe form of congenital hyperinsulinism. Infants suffering from K-ATP hyperinsulinism present shortly after birth with severe and persistent hypoglycemia, and the majority are unresponsive to medical therapy, thus requiring pancreatectomy. In up to 40-60% of the children with K-ATP hyperinsulinism, the defect is limited to a focal lesion in the pancreas. In these children, local resection results in cure with avoidance of the complications inherent to a near-total pancreatectomy. Hyperinsulinism can also be part of other disorders such as Beckwith-Wiedemann syndrome and congenital disorders of glycosylation. The diagnosis and management of children with congenital hyperinsulinism requires a multidisciplinary approach to achieve the goal of therapy: prevention of permanent brain damage due to recurrent hypoglycemia.
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