Non-surgical Treatment May be Appropriate for Most Chinese Children With Monogenic Congenital Hyperinsulinism Based on a Retrospective Study of 121 Patients.

ABSTRACT: Objective: There is a notable absence of extensive Chinese studies involving monogenic congenital hyperinsulinism (CHI). The purpose of this large retrospective Chinese cohort with monogenic CHI from a national children's medical center was to analyze the genetic and clinical characteristics. Methods: We compared clinical characteristics grouped by genotypes based on CHI-targeted next-generation sequencing (tNGS) and performed subgroup analyses by onset time. Results: Totally, 121 non-consanguineous patients were enrolled. Among them, 79 patients (65.3%) had variants in ATP-sensitive potassium channel (KATP) genes (62 heterozygotes and 17 compound heterozygotes), 35 (28.9%) in glutamate dehydrogenase 1 (GLUD1), and 7 (5.8%) in rare genes (hydroxyacyl-CoA

SUBMITTER: Cheng M 

PROVIDER: S-EPMC12016755 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature