Diagnosis and treatment of a newborn with congenital hyperinsulinemia:Case report and literature review

Abstract

Abstract Background: Congenital hyperinsulinemia (CHI) is a condition characterized by abnormal insulin secretion, primarily responsible for persistent hypoglycemia in infants. This study aims to analyze the diagnosis, treatment, and genetic variations in a newborn affected by congenital hyperinsulinemia (CHI), with the goal of enhancing comprehension and diagnostic accuracy of this condition. Case summary: We gathered clinical data from a child diagnosed with CHI and conducted whole exome gene sequencing on the child's peripheral blood as well as that of the parents. Genetic tests revealed that the child carried a complex heterozygous mutation in the ABCC8 gene, specifically c.2153G > A (p.Gly718Asp) and c.946G > A (p.Gly316Arg). Both parents were carriers of these two heterozygous mutations. Notably, the c.2153G > A (p. Gly718Asp) mutation had not been previously reported. Initial treatment with diazoxide proved ineffective; however, stable blood glucose control was achieved after combining octreotide with nifedipine. Conclusion: Hypoglycemia resulting from the complex heterozygous mutations in the ABCC8 gene, specifically c.2153G>A (p.Gly718Asp) and c.946G>A (p.Gly316Arg), can be effectively managed through a combination of octreotide and nifedipine. Genetic testing plays a crucial role in the early diagnosis and treatment of CHI, facilitating prompt and targeted intervention.