Localized islet nuclear enlargement hyperinsulinism (LINE-HI) due to ABCC8 and GCK mosaic mutations.

ABSTRACT:

Objective

Congenital hyperinsulinism (HI) is the most common cause of persistent hypoglycemia in children. In addition to typical focal or diffuse HI, some cases with diazoxide-unresponsive congenital HI have atypical pancreatic histology termed Localized Islet Nuclear Enlargement (LINE) or mosaic HI, characterized by histologic features similar to diffuse HI, but confined to only a region of pancreas. Our objective was to characterize the phenotype and genotype of children with LINE-HI.

Design

The phenotype and genotype features of 12 children with pancreatic histology consistent with LINE-HI were examined.

Methods

We compiled clinical features of 12 children with LINE-HI and performed next-generation sequencing on specimens of pancreas from eight of these children t

SUBMITTER: Boodhansingh KE 

PROVIDER: S-EPMC9339501 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature