A study from CHOP’s HI Center provides insights into how to best care for children with Kabuki syndrome and hyperinsulinism.

When it comes to making discoveries in rare diseases, the more patients and researchers involved, the better the chances of finding breakthroughs.

Curing Anthony’s congenital hyperinsulinism was aided by a diagnostic test pioneered at CHOP 20 years ago.

Both medical management and neurodevelopmental conditions may require accommodations for your child with hyperinsulinism at school.

CHOP’s HI Center, a Frontier Program, continues to set the standard for caring for children with congenital hyperinsulinism.

Advance planning and working closely with your pharmacist can help families manage through medication shortages.

Nurse practitioner Emily Wilkinson, MSN, CRNP, CPNP-PC, is the newest member of the Congenital Hyperinsulinism Center team. Get to know Emily. [short teaser] Meet nurse practitioner Emily Wilkinson, MSN, who will see children in CHOP’s Congenital Hyperinsulinism Center.

Inactivating mutations in the beta cell KATP channels are the most common cause of congenital hyperinsulinism (HI), accounting for approximately 60% of all cases with known genotype. The beta cell KATP channels play a very important role in the regulation of insulin secretion by coupling the metabolic state of the cell to membrane potential.

Unrecognized or inadequately treated hyperinsulinism (HI) poses a high risk of adverse neurodevelopmental outcomes due to the combined insult of hypoglycemia and lack of alternate brain fuels.

The Congenital Hyperinsulinism Center at Children’s Hospital of Philadelphia, with a high volume of approximately 80 congenital hyperinsulinism (HI) cases a year, sees a large share of unusual cases.