A case of congenital hyperinsulinism with ABCC8 variants treated with octreotide long-acting release for four years.

Abstract

Congenital hyperinsulinism (CHI) is a rare disorder resulting in hypoglycemia due to increased insulin secretion and is subdivided into focal and diffuse forms. CHI is associated with neurological damage due to hypoglycemia, making adequate blood glucose management crucial. Although subcutaneous octreotide injection can effectively treat CHI, frequent octreotide administration may be burdensome for patients and their families. Here, we describe a boy with early neonatal-onset persistent CHI treated with octreotide long-acting release (LAR). At first, he received treatment with continuous glucose infusion, diazoxide, and glucagon. Genetic analysis revealed the patient was a compound heterozygote for ABCC8, with diffuse form predicted. Although the focal form can be treated by surgery, the diffuse form requires long-term drug therapy. Therefore, he was treated with octreotide subcutaneous injections and subsequently transitioned to octreotide LAR to avoid the inconvenience of frequent injections. He has been receiving octreotide LAR for four years and has not experienced developmental delays or any apparent side effects, such as necrotizing enterocolitis. The dosing interval can be extended without increasing hypoglycemia. Octreotide LAR reduced the burden on the patient and his family. Octreotide LAR can be an effective long-term treatment for CHI. However, further cases are needed for verification.