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Case Report

Novel Compound Heterozygous Variants of the ABCC8 Gene Warrant Identification of Pancreatic Histology in Infant with Diazoxide-unresponsive Congenital Hyperinsulinism

Department of Pediatrics, King Fahad Hospital of the University, Imam Abdulrahman Bin Faisal University, Damam 31441, Saudi Arabia
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Academic Editor: Rachana Shah
Children 2021, 8(10), 836; https://doi.org/10.3390/children8100836
Received: 9 July 2021 / Revised: 18 September 2021 / Accepted: 20 September 2021 / Published: 23 September 2021
Congenital hyperinsulinism (CHI) is characterized by dysregulated insulin secretion, resulting in severe hypoglycemia. Mutations in the ABCC8 and KCNJ11 genes encoding KATP channels in beta cells of the pancreas are common among patients with CHI. Autosomal recessive CHI with diffuse involvement is the most common type of CHI among Saudi patients. It is relatively common for patients with autosomal recessive CHI to be medically unresponsive and undergo pancreatectomy. In this case report, we describe novel compound heterozygous variants in the ABCC8 gene in a Saudi infant that caused diazoxide-unresponsive CHI. The variants included a monoallelic paternally inherited variant that has been previously reported to cause a focal form of CHI and a maternally inherited variant of unknown significance (VUS). The severity of CHI in this patient was mild over the one-year follow-up period, with a near-optimal glycemic response on a low dose of octreotide. We suspected an atypical subtype of histological involvement in the patient. In this report, we highlight the phenotypic spectrum of novel compound heterozygous variants in a patient with CHI and consider that the report can help establish the pathogenicity of the VUS. View Full-Text
Keywords: congenital hyperinsulinism; diazoxide; ABCC8 congenital hyperinsulinism; diazoxide; ABCC8
MDPI and ACS Style

Al Balwi, R.; Bubshait, D.; Al Nefily, R.; Al Ghamdi, O. Novel Compound Heterozygous Variants of the ABCC8 Gene Warrant Identification of Pancreatic Histology in Infant with Diazoxide-unresponsive Congenital Hyperinsulinism. Children 2021, 8, 836. https://doi.org/10.3390/children8100836

AMA Style

Al Balwi R, Bubshait D, Al Nefily R, Al Ghamdi O. Novel Compound Heterozygous Variants of the ABCC8 Gene Warrant Identification of Pancreatic Histology in Infant with Diazoxide-unresponsive Congenital Hyperinsulinism. Children. 2021; 8(10):836. https://doi.org/10.3390/children8100836

Chicago/Turabian Style

Al Balwi, Rana, Dalal Bubshait, Raed Al Nefily, and Omar Al Ghamdi. 2021. "Novel Compound Heterozygous Variants of the ABCC8 Gene Warrant Identification of Pancreatic Histology in Infant with Diazoxide-unresponsive Congenital Hyperinsulinism" Children 8, no. 10: 836. https://doi.org/10.3390/children8100836

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