Case report: Congenital hyperinsulinemia with ABCC8 gene mutations

Jin Zhang; Jiyang Wang; Hui Chen

doi:10.3389/fped.2022.914267

Case report: Congenital hyperinsulinemia with ABCC8 gene mutations

Front Pediatr. 2022 Aug 11:10:914267. doi: 10.3389/fped.2022.914267. eCollection 2022.

Authors

Jin Zhang¹, Jiyang Wang², Hui Chen³

Affiliations

¹ Gansu Women's and Children's Hospital, Lanzhou, China.
² Institute of Systems Engineering, Macao University of Science and Technology, Macao, China.
³ Department of Endocrinology, Lanzhou University Second Hospital, Lanzhou University, Lanzhou, China.

Abstract

Background: Congenital hyperinsulinemia (CHI) is an inherited disease of abnormal insulin secretion and is the main cause of persistent and intractable hypoglycemia in infants. The aim of this case report was to investigate the genetic mechanisms and treatment of CHI in an affected patient.

Case summary: We collected clinical data from, and performed gene capture, high-throughput gene sequencing analysis, and Sanger sequencing validation, in a child with CHI and his family to identify the causative gene mutations. Two heterozygous pathogenic mutations in the ATP-binding cassette subfamily C member 8 (ABCC8) gene were detected in the child: c.863G>A (p.Trp288Ter) in exon 6 and c.2506C>T (p.Arg836Ter) in exon 21. Sanger sequencing showed that c.863G>A was inherited from heterozygous mutations in the paternal line and c.2506C>T from heterozygous mutations in the maternal line.

Conclusion: The child was a CHI with a biallelic recessive heterozygous mutations in ABCC8 resulting in impairment of its encoded ATP-sensitive potassium (KATP) channel, poor response to diazoxide treatment, and developed diabetes after subtotal pancreatectomy.

Keywords: ABCC8 gene; case report; congenital hyperinsulinemia; diabetes; subtotal pancreatectomy.

Publication types

Case Reports