Nifedipine in Congenital Hyperinsulinism - A Case Report

Area of Science:

• Endocrinology
• Genetics
• Neonatology

Background:

• Congenital hyperinsulinism (CHI) is a leading cause of persistent neonatal hypoglycemia.
• Diazoxide is the standard first-line therapy, but many severe cases are diazoxide-resistant.
• Mutations in ABCC8 and KCNJ11 genes account for the majority of severe, diazoxide-unresponsive CHI cases.

Observation:

• A case of diazoxide-resistant CHI was identified in a neonate with a homozygous ABCC8 nonsense mutation.
• The patient's hypoglycemia was not controlled by pancreatectomy or octreotide monotherapy.
• Continuous glucose monitoring was utilized for safe and reliable glycemic control, reducing needle-prick frequency.

Findings:

• A combination therapy of oral nifedipine and octreotide effectively managed the patient's severe hypoglycemia.
• Following initial combination therapy, octreotide was successfully withdrawn, and the child maintained euglycemia on oral nifedipine alone.
• This case highlights a successful therapeutic strategy for severe diazoxide-resistant CHI.

Implications:

• This study suggests that a combination of nifedipine and octreotide may be an effective treatment for severe diazoxide-resistant congenital hyperinsulinism.
• Nifedipine monotherapy may be a viable long-term option for some patients after initial combination treatment.
• Continuous glucose monitoring is a valuable tool for managing glycemic control in infants with CHI.