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A Newborn with Congenital Hyperinsulinism
Yiting Du1, Rong Ju1, Yufeng Xi1
1Chengdu Women's and Children's Central Hospital , Chengdu , Sichuan , PR China.
Insights
Genetic analysis revealed compound heterozygous mutations in the ABCC8 gene of a child with congenital hyperinsulinism (CHI) and neonatal diabetes, leading to hypoglycemia unresponsive to diazoxide but responsive to octreotide.
Area of Science:
- Genetics
- Pediatrics
- Endocrinology
Background:
- Congenital hyperinsulinism (CHI) is a rare genetic disorder characterized by persistent hypoglycemia.
- The ABCC8 gene plays a crucial role in regulating insulin secretion from pancreatic beta cells.
Observation:
- A newborn infant presented with symptoms of congenital hyperinsulinism.
- Genetic analysis was performed on the ABCC8 gene to identify molecular alterations.
Findings:
- Two distinct mutations, c.4412delT and c.3979G>A, were identified in the ABCC8 gene, indicating a compound heterozygous mutation.
- The c.4412delT variant is linked to CHI, while the c.3979G>A variant is associated with neonatal diabetes.
- The patient exhibited hypoglycemia unresponsive to diazoxide but showed positive response to octreotide acetate treatment.
Implications:
- This case highlights the complex genetic basis of hyperinsulinism and neonatal diabetes.
- Understanding these ABCC8 gene mutations can aid in diagnosing and managing similar cases.
- Further research is needed to elucidate the precise molecular mechanisms underlying the observed phenotype and treatment response.
Abstract:
Objective: Our aim was to describe the molecular alterations in the ABCC8 gene in a child with congenital hyperinsulinism (CHI). Methods: Genetic analysis of the ABCC8 gene of a newborn infant with congenial hyperinsulinism was obtained. Results: There were two mutations in the ABCC8 gene, c.4412delT, and c.3979G > A, indicating a compound heterozygous mutation. The c.4412delT variant is associated with CHI, and the c.3979G > A variant is associated with neonatal diabetes. Treatment with diazoxide was not effective, octreotide treatment with acetate was effective. Conclusion: The combination of a mutation of the ABCC8 gene c.4412delT, associated with CHI, and the mutation of c.3979G > A, associated with neonatal diabetes, resulted in a neonate with hypoglycemia. The mechanism remains unclear.
