Affiliation:
1. Lianyungang Clinical Medical College of Nanjing Medical University
2. The People's Hospital of Suzhou New District
3. Postgraduate Training Base of Lianyungang First People's Hospital of Jinzhou Medical University
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.
Publisher
Research Square Platform LLC
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