Perspective on diagnosis and treatment of congenital hyperinsulinism

Abstract

Congenital hyperinsulinism (CHI) is the most frequent cause of persistent hypoglycemia in infancy, and it is a rare genetic disorder characterized by severe hypoglycemia caused by inappropriate insulin secretion by pancreatic β-cells.The clinical presentation, histology, genetics and response to medical treatment are of genetic heterogeneity.Appropriate treatment is critically important as profound and repeated episodes of hypoglycemia often cause severe brain damage.Based on the biochemical profiles, clinical diagnosis is relative easier to be established, however, the genetic basis is only found in approximately 45%-55% of patients.In terms of treatment, Diazoxide is recommended as first-line treatment for all patients[5-20 mg/(kg·d)]. In patients unresponsive to Diazoxide, if genetic result confirms a monoallelic, recessive paternally-inherited mutation in ABCC8 or KCNJ11, and 18F-fluorodihydroxyphenylalanine-positron emission tomography-computed tomography scan indicates the lesion is located in the body or tail of the pancreas, surgical treatment is recommended.And for the other patients, subcutaneous octreotide, intravenous glucagon, or oral calcium antagonist should be sequentially attempted in order to minimize the need for near-total/subtotal pancreatectomy. Key words: Congenital hyperinsulinism; Insulin; Hypoglycemia; Treatment; Follow-up