Neonatal diabetes is hyperglycemia that presents at 0-6 months of age (rarely later) and requires insulin. Approximately 50-60% of cases are considered transient neonatal diabetes [OMIM #601410] and resolve within 18 months. The remaining cases are considered permanent neonatal diabetes (PNDM) [OMIM #606176]. These patients have low birth weight and require insulin treatment throughout life. Mutations of the KCNJ11 [OMIM #600937] gene have been identified in patients with PNDM. Studies have shown that approximately one-third to one-half of all cases of PNDM are due to activating mutations in KCNJ11.
Hyperinsulinemia of infancy (HI), also known as familial hyperinsulinism and persistent hyperinsulinemic hypoglycemia of infancy, is inappropriate oversecretion of insulin despite hypoglycemia. It usually presents with seizures, hypotonia, poor feeding, apnea, and coma in the neonatal period or infancy, along with high birth weight. Approximately 5% of individuals with HI have inactivating mutations in KCNJ11.
Most patients with KCNJ11 mutations can get better glycemic control without increasing hypoglycemic events by switching from insulin treatment to oral sulfonylureas.
Please use our endocrinology requisition form to order this testing.