Congenital Hyperinsulinism

Abstract

Congenital hyperinsulinism is a rare disorder that commonly presents in the immediate postnatal period as persistent hypoglycemia. The condition is frequently resistant to medical therapies, and the genetic mutations implicated in the disorder can be predictive of response to therapy. Evaluation of hypoglycemia in the illustrative case presented in this article led to genetic testing identifying recessive mutations in the potassium channel subunits of the beta-islet pancreatic cells. Potassium channel defects are often refractory to medical therapies, so near-total pancreatectomy is usually indicated; however, genetic mutations leading to metabolic dysregulation within the beta-islet pancreatic cells are usually responsive to medical therapy. Aggressive treatment of hypoglycemia in the setting of congenital hyperinsulinism is important to prevent long-term neurologic sequelae secondary to hypoglycemia-induced brain injury. [Pediatr Ann. 2017;46(11):e409-e414.].

Clinical Efficacy Evaluation of Sirolimus in Congenital Hyperinsulinism

“…Self-limiting hypoglycemia is a common problem that occurs shortly after birth and is managed by regular feeding or dextrose-containing intravenous fluids. However, persistent hypoglycemia is a major concern as it may imply a serious underlying etiology such as congenital hyperinsulinism (CHI) [1]. CHI is a rare genetic disease with an estimated prevalence of 1 per 50,000 live births [2].…”

Open-Source Technology for Real-Time Continuous Glucose Monitoring in the Neonatal Intensive Care Unit: Case Study in a Neonate With Transient Congenital Hyperinsulinism (Preprint)

“…Frequent hypoglycemia is a potentially life-threatening complication of CHI and may lead to permanent brain damage, which may present in developmental delay and mild to severe neurocognitive difficulties such as deficits in attention, memory, and visual and sensorimotor functions in children with CHI [3,4]. Furthermore, prolonged hospitalizations and intense medical regimes pose a constant psychological burden to infants and children with CHI and their caregivers, limiting their participation in social life, kindergarten, and school [2,5]. Therefore, prevention of hypoglycemia is the main treatment goal in patients with CHI [5,6].…”

“…Furthermore, prolonged hospitalizations and intense medical regimes pose a constant psychological burden to infants and children with CHI and their caregivers, limiting their participation in social life, kindergarten, and school [2,5]. Therefore, prevention of hypoglycemia is the main treatment goal in patients with CHI [5,6]. Therapeutic regimens are complex and depend on the underlying genotype and phenotype.…”